Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51944191C>ACA388030098ATP7Bc.*894-1637G>T (n.*894-1637G>T)
c.*1905G>T (n.*1905G>T)
c.2540G>T (p.Arg847Met)
c.3161G>T (p.Arg1054Met)
c.2828G>T (p.Arg943Met)
c.2909G>T (p.Arg970Met)
c.2927G>T (p.Arg976Met)
n.3300G>T
n.3524G>T
c.2096G>T (p.Arg699Met)
c.1871G>T (p.Arg624Met)
c.2966G>T (p.Arg989Met)
n.381G>T
c.1022-1637G>T
c.*262G>T (n.*262G>T)
n.3905G>T
n.2506G>T
c.3017G>T (p.Arg1006Met)
c.3065G>T (p.Arg1022Met)
c.3125G>T (p.Arg1042Met)
c.2675G>T (p.Arg892Met)
c.977G>T (p.Arg326Met)
c.877-1637G>T (n.877-1637G>T)
c.3026G>T (p.Arg1009Met)
c.3061-1637G>T (n.3061-1637G>T)
c.2747G>T (p.Arg916Met)
c.2731-1637G>T (n.2731-1637G>T)
c.1829G>T (p.Arg610Met)
n.3380G>T
13g.51944191C=CA2091563918ATP7Bc.*894-1637G= (n.*894-1637G=)
c.*1905G= (n.*1905G=)
c.2540G= (p.Arg847=)
c.3161G= (p.Arg1054=)
c.2828G= (p.Arg943=)
c.2909G= (p.Arg970=)
c.2927G= (p.Arg976=)
n.3300G=
n.3524G=
c.2096G= (p.Arg699=)
c.1871G= (p.Arg624=)
c.2966G= (p.Arg989=)
n.381G=
c.1022-1637G=
c.*262G= (n.*262G=)
n.3905G=
n.2506G=
c.3017G= (p.Arg1006=)
c.3065G= (p.Arg1022=)
c.3125G= (p.Arg1042=)
c.2675G= (p.Arg892=)
c.977G= (p.Arg326=)
c.877-1637G= (n.877-1637G=)
c.3026G= (p.Arg1009=)
c.3061-1637G= (n.3061-1637G=)
c.2747G= (p.Arg916=)
c.2731-1637G= (n.2731-1637G=)
c.1829G= (p.Arg610=)
n.3380G=
13g.51944191C>GCA388030099ATP7Bc.*894-1637G>C (n.*894-1637G>C)
c.*1905G>C (n.*1905G>C)
c.2540G>C (p.Arg847Thr)
c.3161G>C (p.Arg1054Thr)
c.2828G>C (p.Arg943Thr)
c.2909G>C (p.Arg970Thr)
c.2927G>C (p.Arg976Thr)
n.3300G>C
n.3524G>C
c.2096G>C (p.Arg699Thr)
c.1871G>C (p.Arg624Thr)
c.2966G>C (p.Arg989Thr)
n.381G>C
c.1022-1637G>C
c.*262G>C (n.*262G>C)
n.3905G>C
n.2506G>C
c.3017G>C (p.Arg1006Thr)
c.3065G>C (p.Arg1022Thr)
c.3125G>C (p.Arg1042Thr)
c.2675G>C (p.Arg892Thr)
c.977G>C (p.Arg326Thr)
c.877-1637G>C (n.877-1637G>C)
c.3026G>C (p.Arg1009Thr)
c.3061-1637G>C (n.3061-1637G>C)
c.2747G>C (p.Arg916Thr)
c.2731-1637G>C (n.2731-1637G>C)
c.1829G>C (p.Arg610Thr)
n.3380G>C
13g.51944191C>TCA250080167ATP7Bc.*894-1637G>A (n.*894-1637G>A)
c.*1905G>A (n.*1905G>A)
c.2540G>A (p.Arg847Lys)
c.3161G>A (p.Arg1054Lys)
c.2828G>A (p.Arg943Lys)
c.2909G>A (p.Arg970Lys)
c.2927G>A (p.Arg976Lys)
n.3300G>A
n.3524G>A
c.2096G>A (p.Arg699Lys)
c.1871G>A (p.Arg624Lys)
c.2966G>A (p.Arg989Lys)
n.381G>A
c.1022-1637G>A
c.*262G>A (n.*262G>A)
n.3905G>A
n.2506G>A
c.3017G>A (p.Arg1006Lys)
c.3065G>A (p.Arg1022Lys)
c.3125G>A (p.Arg1042Lys)
c.2675G>A (p.Arg892Lys)
c.977G>A (p.Arg326Lys)
c.877-1637G>A (n.877-1637G>A)
c.3026G>A (p.Arg1009Lys)
c.3061-1637G>A (n.3061-1637G>A)
c.2747G>A (p.Arg916Lys)
c.2731-1637G>A (n.2731-1637G>A)
c.1829G>A (p.Arg610Lys)
n.3380G>A
 dbSNP gnomAD v4
13g.51944192T>ACA388030102ATP7Bc.*894-1638A>T (n.*894-1638A>T)
c.*1904A>T (n.*1904A>T)
c.2539A>T (p.Arg847Trp)
c.3160A>T (p.Arg1054Trp)
c.2827A>T (p.Arg943Trp)
c.2908A>T (p.Arg970Trp)
c.2926A>T (p.Arg976Trp)
n.3299A>T
n.3523A>T
c.2095A>T (p.Arg699Trp)
c.1870A>T (p.Arg624Trp)
c.2965A>T (p.Arg989Trp)
n.380A>T
c.1022-1638A>T
c.*261A>T (n.*261A>T)
n.3904A>T
n.2505A>T
c.3016A>T (p.Arg1006Trp)
n.506A>T
c.3064A>T (p.Arg1022Trp)
c.3124A>T (p.Arg1042Trp)
c.2674A>T (p.Arg892Trp)
c.976A>T (p.Arg326Trp)
c.877-1638A>T (n.877-1638A>T)
c.3025A>T (p.Arg1009Trp)
c.3061-1638A>T (n.3061-1638A>T)
c.2746A>T (p.Arg916Trp)
c.2731-1638A>T (n.2731-1638A>T)
c.1828A>T (p.Arg610Trp)
n.3379A>T
13g.51944192T>CCA6988792ATP7Bc.*894-1638A>G (n.*894-1638A>G)
c.*1904A>G (n.*1904A>G)
c.2539A>G (p.Arg847Gly)
c.3160A>G (p.Arg1054Gly)
c.2827A>G (p.Arg943Gly)
c.2908A>G (p.Arg970Gly)
c.2926A>G (p.Arg976Gly)
n.3299A>G
n.3523A>G
c.2095A>G (p.Arg699Gly)
c.1870A>G (p.Arg624Gly)
c.2965A>G (p.Arg989Gly)
n.380A>G
c.1022-1638A>G
c.*261A>G (n.*261A>G)
n.3904A>G
n.2505A>G
c.3016A>G (p.Arg1006Gly)
n.506A>G
c.3064A>G (p.Arg1022Gly)
c.3124A>G (p.Arg1042Gly)
c.2674A>G (p.Arg892Gly)
c.976A>G (p.Arg326Gly)
c.877-1638A>G (n.877-1638A>G)
c.3025A>G (p.Arg1009Gly)
c.3061-1638A>G (n.3061-1638A>G)
c.2746A>G (p.Arg916Gly)
c.2731-1638A>G (n.2731-1638A>G)
c.1828A>G (p.Arg610Gly)
n.3379A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944192T>GCA6988791ATP7Bc.*894-1638A>C (n.*894-1638A>C)
c.*1904A>C (n.*1904A>C)
c.2539A>C (p.Arg847=)
c.3160A>C (p.Arg1054=)
c.2827A>C (p.Arg943=)
c.2908A>C (p.Arg970=)
c.2926A>C (p.Arg976=)
n.3299A>C
n.3523A>C
c.2095A>C (p.Arg699=)
c.1870A>C (p.Arg624=)
c.2965A>C (p.Arg989=)
n.380A>C
c.1022-1638A>C
c.*261A>C (n.*261A>C)
n.3904A>C
n.2505A>C
c.3016A>C (p.Arg1006=)
n.506A>C
c.3064A>C (p.Arg1022=)
c.3124A>C (p.Arg1042=)
c.2674A>C (p.Arg892=)
c.976A>C (p.Arg326=)
c.877-1638A>C (n.877-1638A>C)
c.3025A>C (p.Arg1009=)
c.3061-1638A>C (n.3061-1638A>C)
c.2746A>C (p.Arg916=)
c.2731-1638A>C (n.2731-1638A>C)
c.1828A>C (p.Arg610=)
n.3379A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944192T=CA2091563924ATP7Bc.*894-1638A= (n.*894-1638A=)
c.*1904A= (n.*1904A=)
c.2539A= (p.Arg847=)
c.3160A= (p.Arg1054=)
c.2827A= (p.Arg943=)
c.2908A= (p.Arg970=)
c.2926A= (p.Arg976=)
n.3299A=
n.3523A=
c.2095A= (p.Arg699=)
c.1870A= (p.Arg624=)
c.2965A= (p.Arg989=)
n.380A=
c.1022-1638A=
c.*261A= (n.*261A=)
n.3904A=
n.2505A=
c.3016A= (p.Arg1006=)
n.506A=
c.3064A= (p.Arg1022=)
c.3124A= (p.Arg1042=)
c.2674A= (p.Arg892=)
c.976A= (p.Arg326=)
c.877-1638A= (n.877-1638A=)
c.3025A= (p.Arg1009=)
c.3061-1638A= (n.3061-1638A=)
c.2746A= (p.Arg916=)
c.2731-1638A= (n.2731-1638A=)
c.1828A= (p.Arg610=)
n.3379A=
13g.51944193G>ACA483894700ATP7Bc.*894-1639C>T (n.*894-1639C>T)
c.*1903C>T (n.*1903C>T)
c.2538C>T (p.Leu846=)
c.3159C>T (p.Leu1053=)
c.2826C>T (p.Leu942=)
c.2907C>T (p.Leu969=)
c.2925C>T (p.Leu975=)
n.3298C>T
n.3522C>T
c.2094C>T (p.Leu698=)
c.1869C>T (p.Leu623=)
c.2964C>T (p.Leu988=)
n.379C>T
c.1022-1639C>T
c.*260C>T (n.*260C>T)
n.3903C>T
n.2504C>T
c.3015C>T (p.Leu1005=)
n.505C>T
c.3063C>T (p.Leu1021=)
c.3123C>T (p.Leu1041=)
c.2673C>T (p.Leu891=)
c.975C>T (p.Leu325=)
c.877-1639C>T (n.877-1639C>T)
c.3024C>T (p.Leu1008=)
c.3061-1639C>T (n.3061-1639C>T)
c.2745C>T (p.Leu915=)
c.2731-1639C>T (n.2731-1639C>T)
c.1827C>T (p.Leu609=)
n.3378C>T
13g.51944193G>CCA483894701ATP7Bc.*894-1639C>G (n.*894-1639C>G)
c.*1903C>G (n.*1903C>G)
c.2538C>G (p.Leu846=)
c.3159C>G (p.Leu1053=)
c.2826C>G (p.Leu942=)
c.2907C>G (p.Leu969=)
c.2925C>G (p.Leu975=)
n.3298C>G
n.3522C>G
c.2094C>G (p.Leu698=)
c.1869C>G (p.Leu623=)
c.2964C>G (p.Leu988=)
n.379C>G
c.1022-1639C>G
c.*260C>G (n.*260C>G)
n.3903C>G
n.2504C>G
c.3015C>G (p.Leu1005=)
n.505C>G
c.3063C>G (p.Leu1021=)
c.3123C>G (p.Leu1041=)
c.2673C>G (p.Leu891=)
c.975C>G (p.Leu325=)
c.877-1639C>G (n.877-1639C>G)
c.3024C>G (p.Leu1008=)
c.3061-1639C>G (n.3061-1639C>G)
c.2745C>G (p.Leu915=)
c.2731-1639C>G (n.2731-1639C>G)
c.1827C>G (p.Leu609=)
n.3378C>G
 gnomAD v4
13g.51944193G>TCA483894702ATP7Bc.*894-1639C>A (n.*894-1639C>A)
c.*1903C>A (n.*1903C>A)
c.2538C>A (p.Leu846=)
c.3159C>A (p.Leu1053=)
c.2826C>A (p.Leu942=)
c.2907C>A (p.Leu969=)
c.2925C>A (p.Leu975=)
n.3298C>A
n.3522C>A
c.2094C>A (p.Leu698=)
c.1869C>A (p.Leu623=)
c.2964C>A (p.Leu988=)
n.379C>A
c.1022-1639C>A
c.*260C>A (n.*260C>A)
n.3903C>A
n.2504C>A
c.3015C>A (p.Leu1005=)
n.505C>A
c.3063C>A (p.Leu1021=)
c.3123C>A (p.Leu1041=)
c.2673C>A (p.Leu891=)
c.975C>A (p.Leu325=)
c.877-1639C>A (n.877-1639C>A)
c.3024C>A (p.Leu1008=)
c.3061-1639C>A (n.3061-1639C>A)
c.2745C>A (p.Leu915=)
c.2731-1639C>A (n.2731-1639C>A)
c.1827C>A (p.Leu609=)
n.3378C>A
13g.51944194A=CA2091563932ATP7Bc.*894-1640T= (n.*894-1640T=)
c.*1902T= (n.*1902T=)
c.2537T= (p.Leu846=)
c.3158T= (p.Leu1053=)
c.2825T= (p.Leu942=)
c.2906T= (p.Leu969=)
c.2924T= (p.Leu975=)
n.3297T=
n.3521T=
c.2093T= (p.Leu698=)
c.1868T= (p.Leu623=)
c.2963T= (p.Leu988=)
n.378T=
c.1022-1640T=
c.*259T= (n.*259T=)
n.3902T=
n.2503T=
c.3014T= (p.Leu1005=)
n.504T=
c.3062T= (p.Leu1021=)
c.3122T= (p.Leu1041=)
c.2672T= (p.Leu891=)
c.974T= (p.Leu325=)
c.877-1640T= (n.877-1640T=)
c.3023T= (p.Leu1008=)
c.3061-1640T= (n.3061-1640T=)
c.2744T= (p.Leu915=)
c.2731-1640T= (n.2731-1640T=)
c.1826T= (p.Leu609=)
n.3377T=
13g.51944194A>CCA388030103ATP7Bc.*894-1640T>G (n.*894-1640T>G)
c.*1902T>G (n.*1902T>G)
c.2537T>G (p.Leu846Arg)
c.3158T>G (p.Leu1053Arg)
c.2825T>G (p.Leu942Arg)
c.2906T>G (p.Leu969Arg)
c.2924T>G (p.Leu975Arg)
n.3297T>G
n.3521T>G
c.2093T>G (p.Leu698Arg)
c.1868T>G (p.Leu623Arg)
c.2963T>G (p.Leu988Arg)
n.378T>G
c.1022-1640T>G
c.*259T>G (n.*259T>G)
n.3902T>G
n.2503T>G
c.3014T>G (p.Leu1005Arg)
n.504T>G
c.3062T>G (p.Leu1021Arg)
c.3122T>G (p.Leu1041Arg)
c.2672T>G (p.Leu891Arg)
c.974T>G (p.Leu325Arg)
c.877-1640T>G (n.877-1640T>G)
c.3023T>G (p.Leu1008Arg)
c.3061-1640T>G (n.3061-1640T>G)
c.2744T>G (p.Leu915Arg)
c.2731-1640T>G (n.2731-1640T>G)
c.1826T>G (p.Leu609Arg)
n.3377T>G
13g.51944194A>GCA388030104ATP7Bc.*894-1640T>C (n.*894-1640T>C)
c.*1902T>C (n.*1902T>C)
c.2537T>C (p.Leu846Pro)
c.3158T>C (p.Leu1053Pro)
c.2825T>C (p.Leu942Pro)
c.2906T>C (p.Leu969Pro)
c.2924T>C (p.Leu975Pro)
n.3297T>C
n.3521T>C
c.2093T>C (p.Leu698Pro)
c.1868T>C (p.Leu623Pro)
c.2963T>C (p.Leu988Pro)
n.378T>C
c.1022-1640T>C
c.*259T>C (n.*259T>C)
n.3902T>C
n.2503T>C
c.3014T>C (p.Leu1005Pro)
n.504T>C
c.3062T>C (p.Leu1021Pro)
c.3122T>C (p.Leu1041Pro)
c.2672T>C (p.Leu891Pro)
c.974T>C (p.Leu325Pro)
c.877-1640T>C (n.877-1640T>C)
c.3023T>C (p.Leu1008Pro)
c.3061-1640T>C (n.3061-1640T>C)
c.2744T>C (p.Leu915Pro)
c.2731-1640T>C (n.2731-1640T>C)
c.1826T>C (p.Leu609Pro)
n.3377T>C
13g.51944194A>TCA388030106ATP7Bc.*894-1640T>A (n.*894-1640T>A)
c.*1902T>A (n.*1902T>A)
c.2537T>A (p.Leu846His)
c.3158T>A (p.Leu1053His)
c.2825T>A (p.Leu942His)
c.2906T>A (p.Leu969His)
c.2924T>A (p.Leu975His)
n.3297T>A
n.3521T>A
c.2093T>A (p.Leu698His)
c.1868T>A (p.Leu623His)
c.2963T>A (p.Leu988His)
n.378T>A
c.1022-1640T>A
c.*259T>A (n.*259T>A)
n.3902T>A
n.2503T>A
c.3014T>A (p.Leu1005His)
n.504T>A
c.3062T>A (p.Leu1021His)
c.3122T>A (p.Leu1041His)
c.2672T>A (p.Leu891His)
c.974T>A (p.Leu325His)
c.877-1640T>A (n.877-1640T>A)
c.3023T>A (p.Leu1008His)
c.3061-1640T>A (n.3061-1640T>A)
c.2744T>A (p.Leu915His)
c.2731-1640T>A (n.2731-1640T>A)
c.1826T>A (p.Leu609His)
n.3377T>A
13g.51944194dupCA912974797ATP7Bc.*894-1640dup (n.*894-1640dup)
c.*1902dup (n.*1902dup)
c.2537dup (p.Arg847GlnfsTer15)
c.3158dup (p.Arg1054GlnfsTer15)
c.2825dup (p.Arg943GlnfsTer15)
c.2906dup (p.Arg970GlnfsTer15)
c.2924dup (p.Arg976GlnfsTer15)
n.3297dup
n.3521dup
c.2093dup (p.Arg699GlnfsTer15)
c.1868dup (p.Arg624GlnfsTer15)
c.2963dup (p.Arg989GlnfsTer15)
n.378dup
c.1022-1640dup
c.*259dup (n.*259dup)
n.3902dup
n.2503dup
c.3014dup (p.Arg1006GlnfsTer15)
n.504dup
c.3062dup (p.Arg1022GlnfsTer15)
c.3122dup (p.Arg1042GlnfsTer15)
c.2672dup (p.Arg892GlnfsTer15)
c.974dup (p.Arg326GlnfsTer15)
c.877-1640dup (n.877-1640dup)
c.3023dup (p.Arg1009GlnfsTer15)
c.3061-1640dup (n.3061-1640dup)
c.2744dup (p.Arg916GlnfsTer15)
c.2731-1640dup (n.2731-1640dup)
c.1826dup (p.Arg610GlnfsTer15)
n.3377dup
13g.51944195G>ACA388030108ATP7Bc.*894-1641C>T (n.*894-1641C>T)
c.*1901C>T (n.*1901C>T)
c.2536C>T (p.Leu846Phe)
c.3157C>T (p.Leu1053Phe)
c.2824C>T (p.Leu942Phe)
c.2905C>T (p.Leu969Phe)
c.2923C>T (p.Leu975Phe)
n.3296C>T
n.3520C>T
c.2092C>T (p.Leu698Phe)
c.1867C>T (p.Leu623Phe)
c.2962C>T (p.Leu988Phe)
n.377C>T
c.1022-1641C>T
c.*258C>T (n.*258C>T)
n.3901C>T
n.2502C>T
c.3013C>T (p.Leu1005Phe)
n.503C>T
c.3061C>T (p.Leu1021Phe)
c.3121C>T (p.Leu1041Phe)
c.2671C>T (p.Leu891Phe)
c.973C>T (p.Leu325Phe)
c.877-1641C>T (n.877-1641C>T)
c.3022C>T (p.Leu1008Phe)
c.3061-1641C>T (n.3061-1641C>T)
c.2743C>T (p.Leu915Phe)
c.2731-1641C>T (n.2731-1641C>T)
c.1825C>T (p.Leu609Phe)
n.3376C>T
 dbSNP gnomAD v4
13g.51944195G>CCA388030109ATP7Bc.*894-1641C>G (n.*894-1641C>G)
c.*1901C>G (n.*1901C>G)
c.2536C>G (p.Leu846Val)
c.3157C>G (p.Leu1053Val)
c.2824C>G (p.Leu942Val)
c.2905C>G (p.Leu969Val)
c.2923C>G (p.Leu975Val)
n.3296C>G
n.3520C>G
c.2092C>G (p.Leu698Val)
c.1867C>G (p.Leu623Val)
c.2962C>G (p.Leu988Val)
n.377C>G
c.1022-1641C>G
c.*258C>G (n.*258C>G)
n.3901C>G
n.2502C>G
c.3013C>G (p.Leu1005Val)
n.503C>G
c.3061C>G (p.Leu1021Val)
c.3121C>G (p.Leu1041Val)
c.2671C>G (p.Leu891Val)
c.973C>G (p.Leu325Val)
c.877-1641C>G (n.877-1641C>G)
c.3022C>G (p.Leu1008Val)
c.3061-1641C>G (n.3061-1641C>G)
c.2743C>G (p.Leu915Val)
c.2731-1641C>G (n.2731-1641C>G)
c.1825C>G (p.Leu609Val)
n.3376C>G
13g.51944195G=CA2091563937ATP7Bc.*894-1641C= (n.*894-1641C=)
c.*1901C= (n.*1901C=)
c.2536C= (p.Leu846=)
c.3157C= (p.Leu1053=)
c.2824C= (p.Leu942=)
c.2905C= (p.Leu969=)
c.2923C= (p.Leu975=)
n.3296C=
n.3520C=
c.2092C= (p.Leu698=)
c.1867C= (p.Leu623=)
c.2962C= (p.Leu988=)
n.377C=
c.1022-1641C=
c.*258C= (n.*258C=)
n.3901C=
n.2502C=
c.3013C= (p.Leu1005=)
n.503C=
c.3061C= (p.Leu1021=)
c.3121C= (p.Leu1041=)
c.2671C= (p.Leu891=)
c.973C= (p.Leu325=)
c.877-1641C= (n.877-1641C=)
c.3022C= (p.Leu1008=)
c.3061-1641C= (n.3061-1641C=)
c.2743C= (p.Leu915=)
c.2731-1641C= (n.2731-1641C=)
c.1825C= (p.Leu609=)
n.3376C=
13g.51944195G>TCA388030110ATP7Bc.*894-1641C>A (n.*894-1641C>A)
c.*1901C>A (n.*1901C>A)
c.2536C>A (p.Leu846Ile)
c.3157C>A (p.Leu1053Ile)
c.2824C>A (p.Leu942Ile)
c.2905C>A (p.Leu969Ile)
c.2923C>A (p.Leu975Ile)
n.3296C>A
n.3520C>A
c.2092C>A (p.Leu698Ile)
c.1867C>A (p.Leu623Ile)
c.2962C>A (p.Leu988Ile)
n.377C>A
c.1022-1641C>A
c.*258C>A (n.*258C>A)
n.3901C>A
n.2502C>A
c.3013C>A (p.Leu1005Ile)
n.503C>A
c.3061C>A (p.Leu1021Ile)
c.3121C>A (p.Leu1041Ile)
c.2671C>A (p.Leu891Ile)
c.973C>A (p.Leu325Ile)
c.877-1641C>A (n.877-1641C>A)
c.3022C>A (p.Leu1008Ile)
c.3061-1641C>A (n.3061-1641C>A)
c.2743C>A (p.Leu915Ile)
c.2731-1641C>A (n.2731-1641C>A)
c.1825C>A (p.Leu609Ile)
n.3376C>A
13g.51944198dupCA658823705ATP7Bc.*894-1641dup (n.*894-1641dup)
c.*1901dup (n.*1901dup)
c.2536dup (p.Leu846ProfsTer16)
c.3157dup (p.Leu1053ProfsTer16)
c.2824dup (p.Leu942ProfsTer16)
c.2905dup (p.Leu969ProfsTer16)
c.2923dup (p.Leu975ProfsTer16)
n.3296dup
n.3520dup
c.2092dup (p.Leu698ProfsTer16)
c.1867dup (p.Leu623ProfsTer16)
c.2962dup (p.Leu988ProfsTer16)
n.377dup
c.1022-1641dup
c.*258dup (n.*258dup)
n.3901dup
n.2502dup
c.3013dup (p.Leu1005ProfsTer16)
n.503dup
c.3061dup (p.Leu1021ProfsTer16)
c.3121dup (p.Leu1041ProfsTer16)
c.2671dup (p.Leu891ProfsTer16)
c.973dup (p.Leu325ProfsTer16)
c.877-1641dup (n.877-1641dup)
c.3022dup (p.Leu1008ProfsTer16)
c.3061-1641dup (n.3061-1641dup)
c.2743dup (p.Leu915ProfsTer16)
c.2731-1641dup (n.2731-1641dup)
c.1825dup (p.Leu609ProfsTer16)
n.3376dup
 ClinVar dbSNP
13g.51944196G>ACA483894703ATP7Bc.*894-1642C>T (n.*894-1642C>T)
c.*1900C>T (n.*1900C>T)
c.2535C>T (p.Pro845=)
c.3156C>T (p.Pro1052=)
c.2823C>T (p.Pro941=)
c.2904C>T (p.Pro968=)
c.2922C>T (p.Pro974=)
n.3295C>T
n.3519C>T
c.2091C>T (p.Pro697=)
c.1866C>T (p.Pro622=)
c.2961C>T (p.Pro987=)
n.376C>T
c.1022-1642C>T
c.*257C>T (n.*257C>T)
n.3900C>T
n.2501C>T
c.3012C>T (p.Pro1004=)
n.502C>T
c.3060C>T (p.Pro1020=)
c.3120C>T (p.Pro1040=)
c.2670C>T (p.Pro890=)
c.972C>T (p.Pro324=)
c.877-1642C>T (n.877-1642C>T)
c.3021C>T (p.Pro1007=)
c.3061-1642C>T (n.3061-1642C>T)
c.2742C>T (p.Pro914=)
c.2731-1642C>T (n.2731-1642C>T)
c.1824C>T (p.Pro608=)
n.3375C>T
 gnomAD v4
13g.51944196G>CCA483894704ATP7Bc.*894-1642C>G (n.*894-1642C>G)
c.*1900C>G (n.*1900C>G)
c.2535C>G (p.Pro845=)
c.3156C>G (p.Pro1052=)
c.2823C>G (p.Pro941=)
c.2904C>G (p.Pro968=)
c.2922C>G (p.Pro974=)
n.3295C>G
n.3519C>G
c.2091C>G (p.Pro697=)
c.1866C>G (p.Pro622=)
c.2961C>G (p.Pro987=)
n.376C>G
c.1022-1642C>G
c.*257C>G (n.*257C>G)
n.3900C>G
n.2501C>G
c.3012C>G (p.Pro1004=)
n.502C>G
c.3060C>G (p.Pro1020=)
c.3120C>G (p.Pro1040=)
c.2670C>G (p.Pro890=)
c.972C>G (p.Pro324=)
c.877-1642C>G (n.877-1642C>G)
c.3021C>G (p.Pro1007=)
c.3061-1642C>G (n.3061-1642C>G)
c.2742C>G (p.Pro914=)
c.2731-1642C>G (n.2731-1642C>G)
c.1824C>G (p.Pro608=)
n.3375C>G
13g.51944196G>TCA483894705ATP7Bc.*894-1642C>A (n.*894-1642C>A)
c.*1900C>A (n.*1900C>A)
c.2535C>A (p.Pro845=)
c.3156C>A (p.Pro1052=)
c.2823C>A (p.Pro941=)
c.2904C>A (p.Pro968=)
c.2922C>A (p.Pro974=)
n.3295C>A
n.3519C>A
c.2091C>A (p.Pro697=)
c.1866C>A (p.Pro622=)
c.2961C>A (p.Pro987=)
n.376C>A
c.1022-1642C>A
c.*257C>A (n.*257C>A)
n.3900C>A
n.2501C>A
c.3012C>A (p.Pro1004=)
n.502C>A
c.3060C>A (p.Pro1020=)
c.3120C>A (p.Pro1040=)
c.2670C>A (p.Pro890=)
c.972C>A (p.Pro324=)
c.877-1642C>A (n.877-1642C>A)
c.3021C>A (p.Pro1007=)
c.3061-1642C>A (n.3061-1642C>A)
c.2742C>A (p.Pro914=)
c.2731-1642C>A (n.2731-1642C>A)
c.1824C>A (p.Pro608=)
n.3375C>A
13g.51944197G>ACA6988793ATP7Bc.*894-1643C>T (n.*894-1643C>T)
c.*1899C>T (n.*1899C>T)
c.2534C>T (p.Pro845Leu)
c.3155C>T (p.Pro1052Leu)
c.2822C>T (p.Pro941Leu)
c.2903C>T (p.Pro968Leu)
c.2921C>T (p.Pro974Leu)
n.3294C>T
n.3518C>T
c.2090C>T (p.Pro697Leu)
c.1865C>T (p.Pro622Leu)
c.2960C>T (p.Pro987Leu)
n.375C>T
c.1022-1643C>T
c.*256C>T (n.*256C>T)
n.3899C>T
n.2500C>T
c.3011C>T (p.Pro1004Leu)
n.501C>T
c.3059C>T (p.Pro1020Leu)
c.3119C>T (p.Pro1040Leu)
c.2669C>T (p.Pro890Leu)
c.971C>T (p.Pro324Leu)
c.877-1643C>T (n.877-1643C>T)
c.3020C>T (p.Pro1007Leu)
c.3061-1643C>T (n.3061-1643C>T)
c.2741C>T (p.Pro914Leu)
c.2731-1643C>T (n.2731-1643C>T)
c.1823C>T (p.Pro608Leu)
n.3374C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
13g.51944197G>CCA388030115ATP7Bc.*894-1643C>G (n.*894-1643C>G)
c.*1899C>G (n.*1899C>G)
c.2534C>G (p.Pro845Arg)
c.3155C>G (p.Pro1052Arg)
c.2822C>G (p.Pro941Arg)
c.2903C>G (p.Pro968Arg)
c.2921C>G (p.Pro974Arg)
n.3294C>G
n.3518C>G
c.2090C>G (p.Pro697Arg)
c.1865C>G (p.Pro622Arg)
c.2960C>G (p.Pro987Arg)
n.375C>G
c.1022-1643C>G
c.*256C>G (n.*256C>G)
n.3899C>G
n.2500C>G
c.3011C>G (p.Pro1004Arg)
n.501C>G
c.3059C>G (p.Pro1020Arg)
c.3119C>G (p.Pro1040Arg)
c.2669C>G (p.Pro890Arg)
c.971C>G (p.Pro324Arg)
c.877-1643C>G (n.877-1643C>G)
c.3020C>G (p.Pro1007Arg)
c.3061-1643C>G (n.3061-1643C>G)
c.2741C>G (p.Pro914Arg)
c.2731-1643C>G (n.2731-1643C>G)
c.1823C>G (p.Pro608Arg)
n.3374C>G
13g.51944197G=CA2091563942ATP7Bc.*894-1643C= (n.*894-1643C=)
c.*1899C= (n.*1899C=)
c.2534C= (p.Pro845=)
c.3155C= (p.Pro1052=)
c.2822C= (p.Pro941=)
c.2903C= (p.Pro968=)
c.2921C= (p.Pro974=)
n.3294C=
n.3518C=
c.2090C= (p.Pro697=)
c.1865C= (p.Pro622=)
c.2960C= (p.Pro987=)
n.375C=
c.1022-1643C=
c.*256C= (n.*256C=)
n.3899C=
n.2500C=
c.3011C= (p.Pro1004=)
n.501C=
c.3059C= (p.Pro1020=)
c.3119C= (p.Pro1040=)
c.2669C= (p.Pro890=)
c.971C= (p.Pro324=)
c.877-1643C= (n.877-1643C=)
c.3020C= (p.Pro1007=)
c.3061-1643C= (n.3061-1643C=)
c.2741C= (p.Pro914=)
c.2731-1643C= (n.2731-1643C=)
c.1823C= (p.Pro608=)
n.3374C=
13g.51944197G>TCA388030114ATP7Bc.*894-1643C>A (n.*894-1643C>A)
c.*1899C>A (n.*1899C>A)
c.2534C>A (p.Pro845His)
c.3155C>A (p.Pro1052His)
c.2822C>A (p.Pro941His)
c.2903C>A (p.Pro968His)
c.2921C>A (p.Pro974His)
n.3294C>A
n.3518C>A
c.2090C>A (p.Pro697His)
c.1865C>A (p.Pro622His)
c.2960C>A (p.Pro987His)
n.375C>A
c.1022-1643C>A
c.*256C>A (n.*256C>A)
n.3899C>A
n.2500C>A
c.3011C>A (p.Pro1004His)
n.501C>A
c.3059C>A (p.Pro1020His)
c.3119C>A (p.Pro1040His)
c.2669C>A (p.Pro890His)
c.971C>A (p.Pro324His)
c.877-1643C>A (n.877-1643C>A)
c.3020C>A (p.Pro1007His)
c.3061-1643C>A (n.3061-1643C>A)
c.2741C>A (p.Pro914His)
c.2731-1643C>A (n.2731-1643C>A)
c.1823C>A (p.Pro608His)
n.3374C>A
13g.51944198G>ACA388030124ATP7Bc.*894-1644C>T (n.*894-1644C>T)
c.*1898C>T (n.*1898C>T)
c.2533C>T (p.Pro845Ser)
c.3154C>T (p.Pro1052Ser)
c.2821C>T (p.Pro941Ser)
c.2902C>T (p.Pro968Ser)
c.2920C>T (p.Pro974Ser)
n.3293C>T
n.3517C>T
c.2089C>T (p.Pro697Ser)
c.1864C>T (p.Pro622Ser)
c.2959C>T (p.Pro987Ser)
n.374C>T
c.1022-1644C>T
c.*255C>T (n.*255C>T)
n.3898C>T
n.2499C>T
c.3010C>T (p.Pro1004Ser)
n.500C>T
c.3058C>T (p.Pro1020Ser)
c.3118C>T (p.Pro1040Ser)
c.2668C>T (p.Pro890Ser)
c.970C>T (p.Pro324Ser)
c.877-1644C>T (n.877-1644C>T)
c.3019C>T (p.Pro1007Ser)
c.3061-1644C>T (n.3061-1644C>T)
c.2740C>T (p.Pro914Ser)
c.2731-1644C>T (n.2731-1644C>T)
c.1822C>T (p.Pro608Ser)
n.3373C>T
13g.51944198G>CCA388030126ATP7Bc.*894-1644C>G (n.*894-1644C>G)
c.*1898C>G (n.*1898C>G)
c.2533C>G (p.Pro845Ala)
c.3154C>G (p.Pro1052Ala)
c.2821C>G (p.Pro941Ala)
c.2902C>G (p.Pro968Ala)
c.2920C>G (p.Pro974Ala)
n.3293C>G
n.3517C>G
c.2089C>G (p.Pro697Ala)
c.1864C>G (p.Pro622Ala)
c.2959C>G (p.Pro987Ala)
n.374C>G
c.1022-1644C>G
c.*255C>G (n.*255C>G)
n.3898C>G
n.2499C>G
c.3010C>G (p.Pro1004Ala)
n.500C>G
c.3058C>G (p.Pro1020Ala)
c.3118C>G (p.Pro1040Ala)
c.2668C>G (p.Pro890Ala)
c.970C>G (p.Pro324Ala)
c.877-1644C>G (n.877-1644C>G)
c.3019C>G (p.Pro1007Ala)
c.3061-1644C>G (n.3061-1644C>G)
c.2740C>G (p.Pro914Ala)
c.2731-1644C>G (n.2731-1644C>G)
c.1822C>G (p.Pro608Ala)
n.3373C>G
13g.51944198G>TCA388030128ATP7Bc.*894-1644C>A (n.*894-1644C>A)
c.*1898C>A (n.*1898C>A)
c.2533C>A (p.Pro845Thr)
c.3154C>A (p.Pro1052Thr)
c.2821C>A (p.Pro941Thr)
c.2902C>A (p.Pro968Thr)
c.2920C>A (p.Pro974Thr)
n.3293C>A
n.3517C>A
c.2089C>A (p.Pro697Thr)
c.1864C>A (p.Pro622Thr)
c.2959C>A (p.Pro987Thr)
n.374C>A
c.1022-1644C>A
c.*255C>A (n.*255C>A)
n.3898C>A
n.2499C>A
c.3010C>A (p.Pro1004Thr)
n.500C>A
c.3058C>A (p.Pro1020Thr)
c.3118C>A (p.Pro1040Thr)
c.2668C>A (p.Pro890Thr)
c.970C>A (p.Pro324Thr)
c.877-1644C>A (n.877-1644C>A)
c.3019C>A (p.Pro1007Thr)
c.3061-1644C>A (n.3061-1644C>A)
c.2740C>A (p.Pro914Thr)
c.2731-1644C>A (n.2731-1644C>A)
c.1822C>A (p.Pro608Thr)
n.3373C>A
13g.51944199C>ACA483894706ATP7Bc.*894-1645G>T (n.*894-1645G>T)
c.*1897G>T (n.*1897G>T)
c.2532G>T (p.Leu844=)
c.3153G>T (p.Leu1051=)
c.2820G>T (p.Leu940=)
c.2901G>T (p.Leu967=)
c.2919G>T (p.Leu973=)
n.3292G>T
n.3516G>T
c.2088G>T (p.Leu696=)
c.1863G>T (p.Leu621=)
c.2958G>T (p.Leu986=)
n.373G>T
c.1022-1645G>T
c.*254G>T (n.*254G>T)
n.3897G>T
n.2498G>T
c.3009G>T (p.Leu1003=)
n.499G>T
c.3057G>T (p.Leu1019=)
c.3117G>T (p.Leu1039=)
c.2667G>T (p.Leu889=)
c.969G>T (p.Leu323=)
c.877-1645G>T (n.877-1645G>T)
c.3018G>T (p.Leu1006=)
c.3061-1645G>T (n.3061-1645G>T)
c.2739G>T (p.Leu913=)
c.2731-1645G>T (n.2731-1645G>T)
c.1821G>T (p.Leu607=)
n.3372G>T
13g.51944199C=CA2091563949ATP7Bc.*894-1645G= (n.*894-1645G=)
c.*1897G= (n.*1897G=)
c.2532G= (p.Leu844=)
c.3153G= (p.Leu1051=)
c.2820G= (p.Leu940=)
c.2901G= (p.Leu967=)
c.2919G= (p.Leu973=)
n.3292G=
n.3516G=
c.2088G= (p.Leu696=)
c.1863G= (p.Leu621=)
c.2958G= (p.Leu986=)
n.373G=
c.1022-1645G=
c.*254G= (n.*254G=)
n.3897G=
n.2498G=
c.3009G= (p.Leu1003=)
n.499G=
c.3057G= (p.Leu1019=)
c.3117G= (p.Leu1039=)
c.2667G= (p.Leu889=)
c.969G= (p.Leu323=)
c.877-1645G= (n.877-1645G=)
c.3018G= (p.Leu1006=)
c.3061-1645G= (n.3061-1645G=)
c.2739G= (p.Leu913=)
c.2731-1645G= (n.2731-1645G=)
c.1821G= (p.Leu607=)
n.3372G=
13g.51944199C>GCA483894707ATP7Bc.*894-1645G>C (n.*894-1645G>C)
c.*1897G>C (n.*1897G>C)
c.2532G>C (p.Leu844=)
c.3153G>C (p.Leu1051=)
c.2820G>C (p.Leu940=)
c.2901G>C (p.Leu967=)
c.2919G>C (p.Leu973=)
n.3292G>C
n.3516G>C
c.2088G>C (p.Leu696=)
c.1863G>C (p.Leu621=)
c.2958G>C (p.Leu986=)
n.373G>C
c.1022-1645G>C
c.*254G>C (n.*254G>C)
n.3897G>C
n.2498G>C
c.3009G>C (p.Leu1003=)
n.499G>C
c.3057G>C (p.Leu1019=)
c.3117G>C (p.Leu1039=)
c.2667G>C (p.Leu889=)
c.969G>C (p.Leu323=)
c.877-1645G>C (n.877-1645G>C)
c.3018G>C (p.Leu1006=)
c.3061-1645G>C (n.3061-1645G>C)
c.2739G>C (p.Leu913=)
c.2731-1645G>C (n.2731-1645G>C)
c.1821G>C (p.Leu607=)
n.3372G>C
13g.51944199C>TCA483894708ATP7Bc.*894-1645G>A (n.*894-1645G>A)
c.*1897G>A (n.*1897G>A)
c.2532G>A (p.Leu844=)
c.3153G>A (p.Leu1051=)
c.2820G>A (p.Leu940=)
c.2901G>A (p.Leu967=)
c.2919G>A (p.Leu973=)
n.3292G>A
n.3516G>A
c.2088G>A (p.Leu696=)
c.1863G>A (p.Leu621=)
c.2958G>A (p.Leu986=)
n.373G>A
c.1022-1645G>A
c.*254G>A (n.*254G>A)
n.3897G>A
n.2498G>A
c.3009G>A (p.Leu1003=)
n.499G>A
c.3057G>A (p.Leu1019=)
c.3117G>A (p.Leu1039=)
c.2667G>A (p.Leu889=)
c.969G>A (p.Leu323=)
c.877-1645G>A (n.877-1645G>A)
c.3018G>A (p.Leu1006=)
c.3061-1645G>A (n.3061-1645G>A)
c.2739G>A (p.Leu913=)
c.2731-1645G>A (n.2731-1645G>A)
c.1821G>A (p.Leu607=)
n.3372G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51944200A=CA2091563951ATP7Bc.*894-1646T= (n.*894-1646T=)
c.*1896T= (n.*1896T=)
c.2531T= (p.Leu844=)
c.3152T= (p.Leu1051=)
c.2819T= (p.Leu940=)
c.2900T= (p.Leu967=)
c.2918T= (p.Leu973=)
n.3291T=
n.3515T=
c.2087T= (p.Leu696=)
c.1862T= (p.Leu621=)
c.2957T= (p.Leu986=)
n.372T=
c.1022-1646T=
c.*253T= (n.*253T=)
n.3896T=
n.2497T=
c.3008T= (p.Leu1003=)
n.498T=
c.3056T= (p.Leu1019=)
c.3116T= (p.Leu1039=)
c.2666T= (p.Leu889=)
c.968T= (p.Leu323=)
c.877-1646T= (n.877-1646T=)
c.3017T= (p.Leu1006=)
c.3061-1646T= (n.3061-1646T=)
c.2738T= (p.Leu913=)
c.2731-1646T= (n.2731-1646T=)
c.1820T= (p.Leu607=)
n.3371T=
13g.51944200A>CCA250080182ATP7Bc.*894-1646T>G (n.*894-1646T>G)
c.*1896T>G (n.*1896T>G)
c.2531T>G (p.Leu844Arg)
c.3152T>G (p.Leu1051Arg)
c.2819T>G (p.Leu940Arg)
c.2900T>G (p.Leu967Arg)
c.2918T>G (p.Leu973Arg)
n.3291T>G
n.3515T>G
c.2087T>G (p.Leu696Arg)
c.1862T>G (p.Leu621Arg)
c.2957T>G (p.Leu986Arg)
n.372T>G
c.1022-1646T>G
c.*253T>G (n.*253T>G)
n.3896T>G
n.2497T>G
c.3008T>G (p.Leu1003Arg)
n.498T>G
c.3056T>G (p.Leu1019Arg)
c.3116T>G (p.Leu1039Arg)
c.2666T>G (p.Leu889Arg)
c.968T>G (p.Leu323Arg)
c.877-1646T>G (n.877-1646T>G)
c.3017T>G (p.Leu1006Arg)
c.3061-1646T>G (n.3061-1646T>G)
c.2738T>G (p.Leu913Arg)
c.2731-1646T>G (n.2731-1646T>G)
c.1820T>G (p.Leu607Arg)
n.3371T>G
 dbSNP gnomAD v3 gnomAD v4
13g.51944200A>GCA388030130ATP7Bc.*894-1646T>C (n.*894-1646T>C)
c.*1896T>C (n.*1896T>C)
c.2531T>C (p.Leu844Pro)
c.3152T>C (p.Leu1051Pro)
c.2819T>C (p.Leu940Pro)
c.2900T>C (p.Leu967Pro)
c.2918T>C (p.Leu973Pro)
n.3291T>C
n.3515T>C
c.2087T>C (p.Leu696Pro)
c.1862T>C (p.Leu621Pro)
c.2957T>C (p.Leu986Pro)
n.372T>C
c.1022-1646T>C
c.*253T>C (n.*253T>C)
n.3896T>C
n.2497T>C
c.3008T>C (p.Leu1003Pro)
n.498T>C
c.3056T>C (p.Leu1019Pro)
c.3116T>C (p.Leu1039Pro)
c.2666T>C (p.Leu889Pro)
c.968T>C (p.Leu323Pro)
c.877-1646T>C (n.877-1646T>C)
c.3017T>C (p.Leu1006Pro)
c.3061-1646T>C (n.3061-1646T>C)
c.2738T>C (p.Leu913Pro)
c.2731-1646T>C (n.2731-1646T>C)
c.1820T>C (p.Leu607Pro)
n.3371T>C
13g.51944200A>TCA388030133ATP7Bc.*894-1646T>A (n.*894-1646T>A)
c.*1896T>A (n.*1896T>A)
c.2531T>A (p.Leu844Gln)
c.3152T>A (p.Leu1051Gln)
c.2819T>A (p.Leu940Gln)
c.2900T>A (p.Leu967Gln)
c.2918T>A (p.Leu973Gln)
n.3291T>A
n.3515T>A
c.2087T>A (p.Leu696Gln)
c.1862T>A (p.Leu621Gln)
c.2957T>A (p.Leu986Gln)
n.372T>A
c.1022-1646T>A
c.*253T>A (n.*253T>A)
n.3896T>A
n.2497T>A
c.3008T>A (p.Leu1003Gln)
n.498T>A
c.3056T>A (p.Leu1019Gln)
c.3116T>A (p.Leu1039Gln)
c.2666T>A (p.Leu889Gln)
c.968T>A (p.Leu323Gln)
c.877-1646T>A (n.877-1646T>A)
c.3017T>A (p.Leu1006Gln)
c.3061-1646T>A (n.3061-1646T>A)
c.2738T>A (p.Leu913Gln)
c.2731-1646T>A (n.2731-1646T>A)
c.1820T>A (p.Leu607Gln)
n.3371T>A
13g.51944201G>ACA6988794ATP7Bc.*894-1647C>T (n.*894-1647C>T)
c.*1895C>T (n.*1895C>T)
c.2530C>T (p.Leu844=)
c.3151C>T (p.Leu1051=)
c.2818C>T (p.Leu940=)
c.2899C>T (p.Leu967=)
c.2917C>T (p.Leu973=)
n.3290C>T
n.3514C>T
c.2086C>T (p.Leu696=)
c.1861C>T (p.Leu621=)
c.2956C>T (p.Leu986=)
n.371C>T
c.1022-1647C>T
c.*252C>T (n.*252C>T)
n.3895C>T
n.2496C>T
c.3007C>T (p.Leu1003=)
n.497C>T
c.3055C>T (p.Leu1019=)
c.3115C>T (p.Leu1039=)
c.2665C>T (p.Leu889=)
c.967C>T (p.Leu323=)
c.877-1647C>T (n.877-1647C>T)
c.3016C>T (p.Leu1006=)
c.3061-1647C>T (n.3061-1647C>T)
c.2737C>T (p.Leu913=)
c.2731-1647C>T (n.2731-1647C>T)
c.1819C>T (p.Leu607=)
n.3370C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944201G>CCA388030134ATP7Bc.*894-1647C>G (n.*894-1647C>G)
c.*1895C>G (n.*1895C>G)
c.2530C>G (p.Leu844Val)
c.3151C>G (p.Leu1051Val)
c.2818C>G (p.Leu940Val)
c.2899C>G (p.Leu967Val)
c.2917C>G (p.Leu973Val)
n.3290C>G
n.3514C>G
c.2086C>G (p.Leu696Val)
c.1861C>G (p.Leu621Val)
c.2956C>G (p.Leu986Val)
n.371C>G
c.1022-1647C>G
c.*252C>G (n.*252C>G)
n.3895C>G
n.2496C>G
c.3007C>G (p.Leu1003Val)
n.497C>G
c.3055C>G (p.Leu1019Val)
c.3115C>G (p.Leu1039Val)
c.2665C>G (p.Leu889Val)
c.967C>G (p.Leu323Val)
c.877-1647C>G (n.877-1647C>G)
c.3016C>G (p.Leu1006Val)
c.3061-1647C>G (n.3061-1647C>G)
c.2737C>G (p.Leu913Val)
c.2731-1647C>G (n.2731-1647C>G)
c.1819C>G (p.Leu607Val)
n.3370C>G
13g.51944201G=CA2091563955ATP7Bc.*894-1647C= (n.*894-1647C=)
c.*1895C= (n.*1895C=)
c.2530C= (p.Leu844=)
c.3151C= (p.Leu1051=)
c.2818C= (p.Leu940=)
c.2899C= (p.Leu967=)
c.2917C= (p.Leu973=)
n.3290C=
n.3514C=
c.2086C= (p.Leu696=)
c.1861C= (p.Leu621=)
c.2956C= (p.Leu986=)
n.371C=
c.1022-1647C=
c.*252C= (n.*252C=)
n.3895C=
n.2496C=
c.3007C= (p.Leu1003=)
n.497C=
c.3055C= (p.Leu1019=)
c.3115C= (p.Leu1039=)
c.2665C= (p.Leu889=)
c.967C= (p.Leu323=)
c.877-1647C= (n.877-1647C=)
c.3016C= (p.Leu1006=)
c.3061-1647C= (n.3061-1647C=)
c.2737C= (p.Leu913=)
c.2731-1647C= (n.2731-1647C=)
c.1819C= (p.Leu607=)
n.3370C=
13g.51944201G>TCA388030136ATP7Bc.*894-1647C>A (n.*894-1647C>A)
c.*1895C>A (n.*1895C>A)
c.2530C>A (p.Leu844Met)
c.3151C>A (p.Leu1051Met)
c.2818C>A (p.Leu940Met)
c.2899C>A (p.Leu967Met)
c.2917C>A (p.Leu973Met)
n.3290C>A
n.3514C>A
c.2086C>A (p.Leu696Met)
c.1861C>A (p.Leu621Met)
c.2956C>A (p.Leu986Met)
n.371C>A
c.1022-1647C>A
c.*252C>A (n.*252C>A)
n.3895C>A
n.2496C>A
c.3007C>A (p.Leu1003Met)
n.497C>A
c.3055C>A (p.Leu1019Met)
c.3115C>A (p.Leu1039Met)
c.2665C>A (p.Leu889Met)
c.967C>A (p.Leu323Met)
c.877-1647C>A (n.877-1647C>A)
c.3016C>A (p.Leu1006Met)
c.3061-1647C>A (n.3061-1647C>A)
c.2737C>A (p.Leu913Met)
c.2731-1647C>A (n.2731-1647C>A)
c.1819C>A (p.Leu607Met)
n.3370C>A
13g.51944204_51944205delCA912974798ATP7Bc.*894-1648_*894-1647del (n.*894-1648_*894-1647del)
c.*1894_*1895del (n.*1894_*1895del)
c.2529_2530del (p.Leu844AlafsTer17)
c.3150_3151del (p.Leu1051AlafsTer17)
c.2817_2818del (p.Leu940AlafsTer17)
c.2898_2899del (p.Leu967AlafsTer17)
c.2916_2917del (p.Leu973AlafsTer17)
n.3289_3290del
n.3513_3514del
c.2085_2086del (p.Leu696AlafsTer17)
c.1860_1861del (p.Leu621AlafsTer17)
c.2955_2956del (p.Leu986AlafsTer17)
n.370_371del
c.1022-1648_1022-1647del
c.*251_*252del (n.*251_*252del)
n.3894_3895del
n.2495_2496del
c.3006_3007del (p.Leu1003AlafsTer17)
n.496_497del
c.3054_3055del (p.Leu1019AlafsTer17)
c.3114_3115del (p.Leu1039AlafsTer17)
c.2664_2665del (p.Leu889AlafsTer17)
c.966_967del (p.Leu323AlafsTer17)
c.877-1648_877-1647del (n.877-1648_877-1647del)
c.3015_3016del (p.Leu1006AlafsTer17)
c.3061-1648_3061-1647del (n.3061-1648_3061-1647del)
c.2736_2737del (p.Leu913AlafsTer17)
c.2731-1648_2731-1647del (n.2731-1648_2731-1647del)
c.1818_1819del (p.Leu607AlafsTer17)
n.3369_3370del
13g.51944202T>ACA483894709ATP7Bc.*894-1648A>T (n.*894-1648A>T)
c.*1894A>T (n.*1894A>T)
c.2529A>T (p.Thr843=)
c.3150A>T (p.Thr1050=)
c.2817A>T (p.Thr939=)
c.2898A>T (p.Thr966=)
c.2916A>T (p.Thr972=)
n.3289A>T
n.3513A>T
c.2085A>T (p.Thr695=)
c.1860A>T (p.Thr620=)
c.2955A>T (p.Thr985=)
n.370A>T
c.1022-1648A>T
c.*251A>T (n.*251A>T)
n.3894A>T
n.2495A>T
c.3006A>T (p.Thr1002=)
n.496A>T
c.3054A>T (p.Thr1018=)
c.3114A>T (p.Thr1038=)
c.2664A>T (p.Thr888=)
c.966A>T (p.Thr322=)
c.877-1648A>T (n.877-1648A>T)
c.3015A>T (p.Thr1005=)
c.3061-1648A>T (n.3061-1648A>T)
c.2736A>T (p.Thr912=)
c.2731-1648A>T (n.2731-1648A>T)
c.1818A>T (p.Thr606=)
n.3369A>T
13g.51944202T>CCA6988795ATP7Bc.*894-1648A>G (n.*894-1648A>G)
c.*1894A>G (n.*1894A>G)
c.2529A>G (p.Thr843=)
c.3150A>G (p.Thr1050=)
c.2817A>G (p.Thr939=)
c.2898A>G (p.Thr966=)
c.2916A>G (p.Thr972=)
n.3289A>G
n.3513A>G
c.2085A>G (p.Thr695=)
c.1860A>G (p.Thr620=)
c.2955A>G (p.Thr985=)
n.370A>G
c.1022-1648A>G
c.*251A>G (n.*251A>G)
n.3894A>G
n.2495A>G
c.3006A>G (p.Thr1002=)
n.496A>G
c.3054A>G (p.Thr1018=)
c.3114A>G (p.Thr1038=)
c.2664A>G (p.Thr888=)
c.966A>G (p.Thr322=)
c.877-1648A>G (n.877-1648A>G)
c.3015A>G (p.Thr1005=)
c.3061-1648A>G (n.3061-1648A>G)
c.2736A>G (p.Thr912=)
c.2731-1648A>G (n.2731-1648A>G)
c.1818A>G (p.Thr606=)
n.3369A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944202T>GCA483894710ATP7Bc.*894-1648A>C (n.*894-1648A>C)
c.*1894A>C (n.*1894A>C)
c.2529A>C (p.Thr843=)
c.3150A>C (p.Thr1050=)
c.2817A>C (p.Thr939=)
c.2898A>C (p.Thr966=)
c.2916A>C (p.Thr972=)
n.3289A>C
n.3513A>C
c.2085A>C (p.Thr695=)
c.1860A>C (p.Thr620=)
c.2955A>C (p.Thr985=)
n.370A>C
c.1022-1648A>C
c.*251A>C (n.*251A>C)
n.3894A>C
n.2495A>C
c.3006A>C (p.Thr1002=)
n.496A>C
c.3054A>C (p.Thr1018=)
c.3114A>C (p.Thr1038=)
c.2664A>C (p.Thr888=)
c.966A>C (p.Thr322=)
c.877-1648A>C (n.877-1648A>C)
c.3015A>C (p.Thr1005=)
c.3061-1648A>C (n.3061-1648A>C)
c.2736A>C (p.Thr912=)
c.2731-1648A>C (n.2731-1648A>C)
c.1818A>C (p.Thr606=)
n.3369A>C
13g.51944202T=CA2091563963ATP7Bc.*894-1648A= (n.*894-1648A=)
c.*1894A= (n.*1894A=)
c.2529A= (p.Thr843=)
c.3150A= (p.Thr1050=)
c.2817A= (p.Thr939=)
c.2898A= (p.Thr966=)
c.2916A= (p.Thr972=)
n.3289A=
n.3513A=
c.2085A= (p.Thr695=)
c.1860A= (p.Thr620=)
c.2955A= (p.Thr985=)
n.370A=
c.1022-1648A=
c.*251A= (n.*251A=)
n.3894A=
n.2495A=
c.3006A= (p.Thr1002=)
n.496A=
c.3054A= (p.Thr1018=)
c.3114A= (p.Thr1038=)
c.2664A= (p.Thr888=)
c.966A= (p.Thr322=)
c.877-1648A= (n.877-1648A=)
c.3015A= (p.Thr1005=)
c.3061-1648A= (n.3061-1648A=)
c.2736A= (p.Thr912=)
c.2731-1648A= (n.2731-1648A=)
c.1818A= (p.Thr606=)
n.3369A=
13g.51944203G>ACA388030144ATP7Bc.*894-1649C>T (n.*894-1649C>T)
c.*1893C>T (n.*1893C>T)
c.2528C>T (p.Thr843Ile)
c.3149C>T (p.Thr1050Ile)
c.2816C>T (p.Thr939Ile)
c.2897C>T (p.Thr966Ile)
c.2915C>T (p.Thr972Ile)
n.3288C>T
n.3512C>T
c.2084C>T (p.Thr695Ile)
c.1859C>T (p.Thr620Ile)
c.2954C>T (p.Thr985Ile)
n.369C>T
c.1022-1649C>T
c.*250C>T (n.*250C>T)
n.3893C>T
n.2494C>T
c.3005C>T (p.Thr1002Ile)
n.495C>T
c.3053C>T (p.Thr1018Ile)
c.3113C>T (p.Thr1038Ile)
c.2663C>T (p.Thr888Ile)
c.965C>T (p.Thr322Ile)
c.877-1649C>T (n.877-1649C>T)
c.3014C>T (p.Thr1005Ile)
c.3061-1649C>T (n.3061-1649C>T)
c.2735C>T (p.Thr912Ile)
c.2731-1649C>T (n.2731-1649C>T)
c.1817C>T (p.Thr606Ile)
n.3368C>T
13g.51944203G>CCA388030142ATP7Bc.*894-1649C>G (n.*894-1649C>G)
c.*1893C>G (n.*1893C>G)
c.2528C>G (p.Thr843Arg)
c.3149C>G (p.Thr1050Arg)
c.2816C>G (p.Thr939Arg)
c.2897C>G (p.Thr966Arg)
c.2915C>G (p.Thr972Arg)
n.3288C>G
n.3512C>G
c.2084C>G (p.Thr695Arg)
c.1859C>G (p.Thr620Arg)
c.2954C>G (p.Thr985Arg)
n.369C>G
c.1022-1649C>G
c.*250C>G (n.*250C>G)
n.3893C>G
n.2494C>G
c.3005C>G (p.Thr1002Arg)
n.495C>G
c.3053C>G (p.Thr1018Arg)
c.3113C>G (p.Thr1038Arg)
c.2663C>G (p.Thr888Arg)
c.965C>G (p.Thr322Arg)
c.877-1649C>G (n.877-1649C>G)
c.3014C>G (p.Thr1005Arg)
c.3061-1649C>G (n.3061-1649C>G)
c.2735C>G (p.Thr912Arg)
c.2731-1649C>G (n.2731-1649C>G)
c.1817C>G (p.Thr606Arg)
n.3368C>G
13g.51944203G>TCA388030139ATP7Bc.*894-1649C>A (n.*894-1649C>A)
c.*1893C>A (n.*1893C>A)
c.2528C>A (p.Thr843Lys)
c.3149C>A (p.Thr1050Lys)
c.2816C>A (p.Thr939Lys)
c.2897C>A (p.Thr966Lys)
c.2915C>A (p.Thr972Lys)
n.3288C>A
n.3512C>A
c.2084C>A (p.Thr695Lys)
c.1859C>A (p.Thr620Lys)
c.2954C>A (p.Thr985Lys)
n.369C>A
c.1022-1649C>A
c.*250C>A (n.*250C>A)
n.3893C>A
n.2494C>A
c.3005C>A (p.Thr1002Lys)
n.495C>A
c.3053C>A (p.Thr1018Lys)
c.3113C>A (p.Thr1038Lys)
c.2663C>A (p.Thr888Lys)
c.965C>A (p.Thr322Lys)
c.877-1649C>A (n.877-1649C>A)
c.3014C>A (p.Thr1005Lys)
c.3061-1649C>A (n.3061-1649C>A)
c.2735C>A (p.Thr912Lys)
c.2731-1649C>A (n.2731-1649C>A)
c.1817C>A (p.Thr606Lys)
n.3368C>A
13g.51944204T>ACA388030146ATP7Bc.*894-1650A>T (n.*894-1650A>T)
c.*1892A>T (n.*1892A>T)
c.2527A>T (p.Thr843Ser)
c.3148A>T (p.Thr1050Ser)
c.2815A>T (p.Thr939Ser)
c.2896A>T (p.Thr966Ser)
c.2914A>T (p.Thr972Ser)
n.3287A>T
n.3511A>T
c.2083A>T (p.Thr695Ser)
c.1858A>T (p.Thr620Ser)
c.2953A>T (p.Thr985Ser)
n.368A>T
c.1022-1650A>T
c.*249A>T (n.*249A>T)
n.3892A>T
n.2493A>T
c.3004A>T (p.Thr1002Ser)
n.494A>T
c.3052A>T (p.Thr1018Ser)
c.3112A>T (p.Thr1038Ser)
c.2662A>T (p.Thr888Ser)
c.964A>T (p.Thr322Ser)
c.877-1650A>T (n.877-1650A>T)
c.3013A>T (p.Thr1005Ser)
c.3061-1650A>T (n.3061-1650A>T)
c.2734A>T (p.Thr912Ser)
c.2731-1650A>T (n.2731-1650A>T)
c.1816A>T (p.Thr606Ser)
n.3367A>T
13g.51944204T>CCA388030149ATP7Bc.*894-1650A>G (n.*894-1650A>G)
c.*1892A>G (n.*1892A>G)
c.2527A>G (p.Thr843Ala)
c.3148A>G (p.Thr1050Ala)
c.2815A>G (p.Thr939Ala)
c.2896A>G (p.Thr966Ala)
c.2914A>G (p.Thr972Ala)
n.3287A>G
n.3511A>G
c.2083A>G (p.Thr695Ala)
c.1858A>G (p.Thr620Ala)
c.2953A>G (p.Thr985Ala)
n.368A>G
c.1022-1650A>G
c.*249A>G (n.*249A>G)
n.3892A>G
n.2493A>G
c.3004A>G (p.Thr1002Ala)
n.494A>G
c.3052A>G (p.Thr1018Ala)
c.3112A>G (p.Thr1038Ala)
c.2662A>G (p.Thr888Ala)
c.964A>G (p.Thr322Ala)
c.877-1650A>G (n.877-1650A>G)
c.3013A>G (p.Thr1005Ala)
c.3061-1650A>G (n.3061-1650A>G)
c.2734A>G (p.Thr912Ala)
c.2731-1650A>G (n.2731-1650A>G)
c.1816A>G (p.Thr606Ala)
n.3367A>G
 gnomAD v4
13g.51944204T>GCA388030147ATP7Bc.*894-1650A>C (n.*894-1650A>C)
c.*1892A>C (n.*1892A>C)
c.2527A>C (p.Thr843Pro)
c.3148A>C (p.Thr1050Pro)
c.2815A>C (p.Thr939Pro)
c.2896A>C (p.Thr966Pro)
c.2914A>C (p.Thr972Pro)
n.3287A>C
n.3511A>C
c.2083A>C (p.Thr695Pro)
c.1858A>C (p.Thr620Pro)
c.2953A>C (p.Thr985Pro)
n.368A>C
c.1022-1650A>C
c.*249A>C (n.*249A>C)
n.3892A>C
n.2493A>C
c.3004A>C (p.Thr1002Pro)
n.494A>C
c.3052A>C (p.Thr1018Pro)
c.3112A>C (p.Thr1038Pro)
c.2662A>C (p.Thr888Pro)
c.964A>C (p.Thr322Pro)
c.877-1650A>C (n.877-1650A>C)
c.3013A>C (p.Thr1005Pro)
c.3061-1650A>C (n.3061-1650A>C)
c.2734A>C (p.Thr912Pro)
c.2731-1650A>C (n.2731-1650A>C)
c.1816A>C (p.Thr606Pro)
n.3367A>C
13g.51944204_51944205delinsTGCA2091563969ATP7Bc.*894-1651_*894-1650delinsCA (n.*894-1651_*894-1650delinsCA)
c.*1891_*1892delinsCA (n.*1891_*1892delinsCA)
c.2526_2527delinsCA (p.Ala842=)
c.3147_3148delinsCA (p.Ala1049=)
c.2814_2815delinsCA (p.Ala938=)
c.2895_2896delinsCA (p.Ala965=)
c.2913_2914delinsCA (p.Ala971=)
n.3286_3287delinsCA
n.3510_3511delinsCA
c.2082_2083delinsCA (p.Ala694=)
c.1857_1858delinsCA (p.Ala619=)
c.2952_2953delinsCA (p.Ala984=)
n.367_368delinsCA
c.1022-1651_1022-1650delinsCA
c.*248_*249delinsCA (n.*248_*249delinsCA)
n.3891_3892delinsCA
n.2492_2493delinsCA
c.3003_3004delinsCA (p.Ala1001=)
n.493_494delinsCA
c.3051_3052delinsCA (p.Ala1017=)
c.3111_3112delinsCA (p.Ala1037=)
c.2661_2662delinsCA (p.Ala887=)
c.963_964delinsCA (p.Ala321=)
c.877-1651_877-1650delinsCA (n.877-1651_877-1650delinsCA)
c.3012_3013delinsCA (p.Ala1004=)
c.3061-1651_3061-1650delinsCA (n.3061-1651_3061-1650delinsCA)
c.2733_2734delinsCA (p.Ala911=)
c.2731-1651_2731-1650delinsCA (n.2731-1651_2731-1650delinsCA)
c.1815_1816delinsCA (p.Ala605=)
n.3366_3367delinsCA
13g.51944205G>ACA483894711ATP7Bc.*894-1651C>T (n.*894-1651C>T)
c.*1891C>T (n.*1891C>T)
c.2526C>T (p.Ala842=)
c.3147C>T (p.Ala1049=)
c.2814C>T (p.Ala938=)
c.2895C>T (p.Ala965=)
c.2913C>T (p.Ala971=)
n.3286C>T
n.3510C>T
c.2082C>T (p.Ala694=)
c.1857C>T (p.Ala619=)
c.2952C>T (p.Ala984=)
n.367C>T
c.1022-1651C>T
c.*248C>T (n.*248C>T)
n.3891C>T
n.2492C>T
c.3003C>T (p.Ala1001=)
n.493C>T
c.3051C>T (p.Ala1017=)
c.3111C>T (p.Ala1037=)
c.2661C>T (p.Ala887=)
c.963C>T (p.Ala321=)
c.877-1651C>T (n.877-1651C>T)
c.3012C>T (p.Ala1004=)
c.3061-1651C>T (n.3061-1651C>T)
c.2733C>T (p.Ala911=)
c.2731-1651C>T (n.2731-1651C>T)
c.1815C>T (p.Ala605=)
n.3366C>T
13g.51944205G>CCA483894712ATP7Bc.*894-1651C>G (n.*894-1651C>G)
c.*1891C>G (n.*1891C>G)
c.2526C>G (p.Ala842=)
c.3147C>G (p.Ala1049=)
c.2814C>G (p.Ala938=)
c.2895C>G (p.Ala965=)
c.2913C>G (p.Ala971=)
n.3286C>G
n.3510C>G
c.2082C>G (p.Ala694=)
c.1857C>G (p.Ala619=)
c.2952C>G (p.Ala984=)
n.367C>G
c.1022-1651C>G
c.*248C>G (n.*248C>G)
n.3891C>G
n.2492C>G
c.3003C>G (p.Ala1001=)
n.493C>G
c.3051C>G (p.Ala1017=)
c.3111C>G (p.Ala1037=)
c.2661C>G (p.Ala887=)
c.963C>G (p.Ala321=)
c.877-1651C>G (n.877-1651C>G)
c.3012C>G (p.Ala1004=)
c.3061-1651C>G (n.3061-1651C>G)
c.2733C>G (p.Ala911=)
c.2731-1651C>G (n.2731-1651C>G)
c.1815C>G (p.Ala605=)
n.3366C>G
13g.51944205G>TCA483894713ATP7Bc.*894-1651C>A (n.*894-1651C>A)
c.*1891C>A (n.*1891C>A)
c.2526C>A (p.Ala842=)
c.3147C>A (p.Ala1049=)
c.2814C>A (p.Ala938=)
c.2895C>A (p.Ala965=)
c.2913C>A (p.Ala971=)
n.3286C>A
n.3510C>A
c.2082C>A (p.Ala694=)
c.1857C>A (p.Ala619=)
c.2952C>A (p.Ala984=)
n.367C>A
c.1022-1651C>A
c.*248C>A (n.*248C>A)
n.3891C>A
n.2492C>A
c.3003C>A (p.Ala1001=)
n.493C>A
c.3051C>A (p.Ala1017=)
c.3111C>A (p.Ala1037=)
c.2661C>A (p.Ala887=)
c.963C>A (p.Ala321=)
c.877-1651C>A (n.877-1651C>A)
c.3012C>A (p.Ala1004=)
c.3061-1651C>A (n.3061-1651C>A)
c.2733C>A (p.Ala911=)
c.2731-1651C>A (n.2731-1651C>A)
c.1815C>A (p.Ala605=)
n.3366C>A
13g.51944206delCA6988796ATP7Bc.*894-1651del (n.*894-1651del)
c.*1891del (n.*1891del)
c.2526del (p.Thr843HisfsTer?)
c.3147del (p.Thr1050HisfsTer?)
c.2814del (p.Thr939HisfsTer?)
c.2895del (p.Thr966HisfsTer?)
c.2913del (p.Thr972HisfsTer?)
n.3286del
n.3510del
c.2082del (p.Thr695HisfsTer?)
c.1857del (p.Thr620HisfsTer?)
c.2952del (p.Thr985HisfsTer?)
n.367del
c.1022-1651del
c.*248del (n.*248del)
n.3891del
n.2492del
c.3003del (p.Thr1002HisfsTer?)
n.493del
c.3051del (p.Thr1018HisfsTer?)
c.3111del (p.Thr1038HisfsTer?)
c.2661del (p.Thr888HisfsTer?)
c.963del (p.Thr322HisfsTer?)
c.877-1651del (n.877-1651del)
c.3012del (p.Thr1005HisfsTer?)
c.3061-1651del (n.3061-1651del)
c.2733del (p.Thr912HisfsTer?)
c.2731-1651del (n.2731-1651del)
c.1815del (p.Thr606HisfsTer?)
n.3366del
 ClinVar dbSNP ExAC gnomAD v4
13g.51944206G>ACA6988797ATP7Bc.*894-1652C>T (n.*894-1652C>T)
c.*1890C>T (n.*1890C>T)
c.2525C>T (p.Ala842Val)
c.3146C>T (p.Ala1049Val)
c.2813C>T (p.Ala938Val)
c.2894C>T (p.Ala965Val)
c.2912C>T (p.Ala971Val)
n.3285C>T
n.3509C>T
c.2081C>T (p.Ala694Val)
c.1856C>T (p.Ala619Val)
c.2951C>T (p.Ala984Val)
n.366C>T
c.1022-1652C>T
c.*247C>T (n.*247C>T)
n.3890C>T
n.2491C>T
c.3002C>T (p.Ala1001Val)
n.492C>T
c.3050C>T (p.Ala1017Val)
c.3110C>T (p.Ala1037Val)
c.2660C>T (p.Ala887Val)
c.962C>T (p.Ala321Val)
c.877-1652C>T (n.877-1652C>T)
c.3011C>T (p.Ala1004Val)
c.3061-1652C>T (n.3061-1652C>T)
c.2732C>T (p.Ala911Val)
c.2731-1652C>T (n.2731-1652C>T)
c.1814C>T (p.Ala605Val)
n.3365C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944206G>CCA388030157ATP7Bc.*894-1652C>G (n.*894-1652C>G)
c.*1890C>G (n.*1890C>G)
c.2525C>G (p.Ala842Gly)
c.3146C>G (p.Ala1049Gly)
c.2813C>G (p.Ala938Gly)
c.2894C>G (p.Ala965Gly)
c.2912C>G (p.Ala971Gly)
n.3285C>G
n.3509C>G
c.2081C>G (p.Ala694Gly)
c.1856C>G (p.Ala619Gly)
c.2951C>G (p.Ala984Gly)
n.366C>G
c.1022-1652C>G
c.*247C>G (n.*247C>G)
n.3890C>G
n.2491C>G
c.3002C>G (p.Ala1001Gly)
n.492C>G
c.3050C>G (p.Ala1017Gly)
c.3110C>G (p.Ala1037Gly)
c.2660C>G (p.Ala887Gly)
c.962C>G (p.Ala321Gly)
c.877-1652C>G (n.877-1652C>G)
c.3011C>G (p.Ala1004Gly)
c.3061-1652C>G (n.3061-1652C>G)
c.2732C>G (p.Ala911Gly)
c.2731-1652C>G (n.2731-1652C>G)
c.1814C>G (p.Ala605Gly)
n.3365C>G
13g.51944206G=CA2091563980ATP7Bc.*894-1652C= (n.*894-1652C=)
c.*1890C= (n.*1890C=)
c.2525C= (p.Ala842=)
c.3146C= (p.Ala1049=)
c.2813C= (p.Ala938=)
c.2894C= (p.Ala965=)
c.2912C= (p.Ala971=)
n.3285C=
n.3509C=
c.2081C= (p.Ala694=)
c.1856C= (p.Ala619=)
c.2951C= (p.Ala984=)
n.366C=
c.1022-1652C=
c.*247C= (n.*247C=)
n.3890C=
n.2491C=
c.3002C= (p.Ala1001=)
n.492C=
c.3050C= (p.Ala1017=)
c.3110C= (p.Ala1037=)
c.2660C= (p.Ala887=)
c.962C= (p.Ala321=)
c.877-1652C= (n.877-1652C=)
c.3011C= (p.Ala1004=)
c.3061-1652C= (n.3061-1652C=)
c.2732C= (p.Ala911=)
c.2731-1652C= (n.2731-1652C=)
c.1814C= (p.Ala605=)
n.3365C=
13g.51944206G>TCA388030159ATP7Bc.*894-1652C>A (n.*894-1652C>A)
c.*1890C>A (n.*1890C>A)
c.2525C>A (p.Ala842Asp)
c.3146C>A (p.Ala1049Asp)
c.2813C>A (p.Ala938Asp)
c.2894C>A (p.Ala965Asp)
c.2912C>A (p.Ala971Asp)
n.3285C>A
n.3509C>A
c.2081C>A (p.Ala694Asp)
c.1856C>A (p.Ala619Asp)
c.2951C>A (p.Ala984Asp)
n.366C>A
c.1022-1652C>A
c.*247C>A (n.*247C>A)
n.3890C>A
n.2491C>A
c.3002C>A (p.Ala1001Asp)
n.492C>A
c.3050C>A (p.Ala1017Asp)
c.3110C>A (p.Ala1037Asp)
c.2660C>A (p.Ala887Asp)
c.962C>A (p.Ala321Asp)
c.877-1652C>A (n.877-1652C>A)
c.3011C>A (p.Ala1004Asp)
c.3061-1652C>A (n.3061-1652C>A)
c.2732C>A (p.Ala911Asp)
c.2731-1652C>A (n.2731-1652C>A)
c.1814C>A (p.Ala605Asp)
n.3365C>A
13g.51944207C>ACA388030162ATP7Bc.*894-1653G>T (n.*894-1653G>T)
c.*1889G>T (n.*1889G>T)
c.2524G>T (p.Ala842Ser)
c.3145G>T (p.Ala1049Ser)
c.2812G>T (p.Ala938Ser)
c.2893G>T (p.Ala965Ser)
c.2911G>T (p.Ala971Ser)
n.3284G>T
n.3508G>T
c.2080G>T (p.Ala694Ser)
c.1855G>T (p.Ala619Ser)
c.2950G>T (p.Ala984Ser)
n.365G>T
c.1022-1653G>T
c.*246G>T (n.*246G>T)
n.3889G>T
n.2490G>T
c.3001G>T (p.Ala1001Ser)
n.491G>T
c.3049G>T (p.Ala1017Ser)
c.3109G>T (p.Ala1037Ser)
c.2659G>T (p.Ala887Ser)
c.961G>T (p.Ala321Ser)
c.877-1653G>T (n.877-1653G>T)
c.3010G>T (p.Ala1004Ser)
c.3061-1653G>T (n.3061-1653G>T)
c.2731G>T (p.Ala911Ser)
c.2731-1653G>T (n.2731-1653G>T)
c.1813G>T (p.Ala605Ser)
n.3364G>T
13g.51944207C>GCA388030166ATP7Bc.*894-1653G>C (n.*894-1653G>C)
c.*1889G>C (n.*1889G>C)
c.2524G>C (p.Ala842Pro)
c.3145G>C (p.Ala1049Pro)
c.2812G>C (p.Ala938Pro)
c.2893G>C (p.Ala965Pro)
c.2911G>C (p.Ala971Pro)
n.3284G>C
n.3508G>C
c.2080G>C (p.Ala694Pro)
c.1855G>C (p.Ala619Pro)
c.2950G>C (p.Ala984Pro)
n.365G>C
c.1022-1653G>C
c.*246G>C (n.*246G>C)
n.3889G>C
n.2490G>C
c.3001G>C (p.Ala1001Pro)
n.491G>C
c.3049G>C (p.Ala1017Pro)
c.3109G>C (p.Ala1037Pro)
c.2659G>C (p.Ala887Pro)
c.961G>C (p.Ala321Pro)
c.877-1653G>C (n.877-1653G>C)
c.3010G>C (p.Ala1004Pro)
c.3061-1653G>C (n.3061-1653G>C)
c.2731G>C (p.Ala911Pro)
c.2731-1653G>C (n.2731-1653G>C)
c.1813G>C (p.Ala605Pro)
n.3364G>C
 gnomAD v4
13g.51944207C>TCA388030172ATP7Bc.*894-1653G>A (n.*894-1653G>A)
c.*1889G>A (n.*1889G>A)
c.2524G>A (p.Ala842Thr)
c.3145G>A (p.Ala1049Thr)
c.2812G>A (p.Ala938Thr)
c.2893G>A (p.Ala965Thr)
c.2911G>A (p.Ala971Thr)
n.3284G>A
n.3508G>A
c.2080G>A (p.Ala694Thr)
c.1855G>A (p.Ala619Thr)
c.2950G>A (p.Ala984Thr)
n.365G>A
c.1022-1653G>A
c.*246G>A (n.*246G>A)
n.3889G>A
n.2490G>A
c.3001G>A (p.Ala1001Thr)
n.491G>A
c.3049G>A (p.Ala1017Thr)
c.3109G>A (p.Ala1037Thr)
c.2659G>A (p.Ala887Thr)
c.961G>A (p.Ala321Thr)
c.877-1653G>A (n.877-1653G>A)
c.3010G>A (p.Ala1004Thr)
c.3061-1653G>A (n.3061-1653G>A)
c.2731G>A (p.Ala911Thr)
c.2731-1653G>A (n.2731-1653G>A)
c.1813G>A (p.Ala605Thr)
n.3364G>A
 gnomAD v4
13g.51944208C>ACA483894714ATP7Bc.*894-1654G>T (n.*894-1654G>T)
c.*1888G>T (n.*1888G>T)
c.2523G>T (p.Val841=)
c.3144G>T (p.Val1048=)
c.2811G>T (p.Val937=)
c.2892G>T (p.Val964=)
c.2910G>T (p.Val970=)
n.3283G>T
n.3507G>T
c.2079G>T (p.Val693=)
c.1854G>T (p.Val618=)
c.2949G>T (p.Val983=)
n.364G>T
c.1022-1654G>T
c.*245G>T (n.*245G>T)
n.3888G>T
n.2489G>T
c.3000G>T (p.Val1000=)
n.490G>T
c.3048G>T (p.Val1016=)
c.3108G>T (p.Val1036=)
c.2658G>T (p.Val886=)
c.960G>T (p.Val320=)
c.877-1654G>T (n.877-1654G>T)
c.3009G>T (p.Val1003=)
c.3061-1654G>T (n.3061-1654G>T)
c.2730G>T (p.Val910=)
c.2731-1654G>T (n.2731-1654G>T)
c.1812G>T (p.Val604=)
n.3363G>T
13g.51944208C>GCA483894716ATP7Bc.*894-1654G>C (n.*894-1654G>C)
c.*1888G>C (n.*1888G>C)
c.2523G>C (p.Val841=)
c.3144G>C (p.Val1048=)
c.2811G>C (p.Val937=)
c.2892G>C (p.Val964=)
c.2910G>C (p.Val970=)
n.3283G>C
n.3507G>C
c.2079G>C (p.Val693=)
c.1854G>C (p.Val618=)
c.2949G>C (p.Val983=)
n.364G>C
c.1022-1654G>C
c.*245G>C (n.*245G>C)
n.3888G>C
n.2489G>C
c.3000G>C (p.Val1000=)
n.490G>C
c.3048G>C (p.Val1016=)
c.3108G>C (p.Val1036=)
c.2658G>C (p.Val886=)
c.960G>C (p.Val320=)
c.877-1654G>C (n.877-1654G>C)
c.3009G>C (p.Val1003=)
c.3061-1654G>C (n.3061-1654G>C)
c.2730G>C (p.Val910=)
c.2731-1654G>C (n.2731-1654G>C)
c.1812G>C (p.Val604=)
n.3363G>C
13g.51944208C>TCA483894715ATP7Bc.*894-1654G>A (n.*894-1654G>A)
c.*1888G>A (n.*1888G>A)
c.2523G>A (p.Val841=)
c.3144G>A (p.Val1048=)
c.2811G>A (p.Val937=)
c.2892G>A (p.Val964=)
c.2910G>A (p.Val970=)
n.3283G>A
n.3507G>A
c.2079G>A (p.Val693=)
c.1854G>A (p.Val618=)
c.2949G>A (p.Val983=)
n.364G>A
c.1022-1654G>A
c.*245G>A (n.*245G>A)
n.3888G>A
n.2489G>A
c.3000G>A (p.Val1000=)
n.490G>A
c.3048G>A (p.Val1016=)
c.3108G>A (p.Val1036=)
c.2658G>A (p.Val886=)
c.960G>A (p.Val320=)
c.877-1654G>A (n.877-1654G>A)
c.3009G>A (p.Val1003=)
c.3061-1654G>A (n.3061-1654G>A)
c.2730G>A (p.Val910=)
c.2731-1654G>A (n.2731-1654G>A)
c.1812G>A (p.Val604=)
n.3363G>A
13g.51944209A=CA2091563989ATP7Bc.*894-1655T= (n.*894-1655T=)
c.*1887T= (n.*1887T=)
c.2522T= (p.Val841=)
c.3143T= (p.Val1048=)
c.2810T= (p.Val937=)
c.2891T= (p.Val964=)
c.2909T= (p.Val970=)
n.3282T=
n.3506T=
c.2078T= (p.Val693=)
c.1853T= (p.Val618=)
c.2948T= (p.Val983=)
n.363T=
c.1022-1655T=
c.*244T= (n.*244T=)
n.3887T=
n.2488T=
c.2999T= (p.Val1000=)
n.489T=
c.3047T= (p.Val1016=)
c.3107T= (p.Val1036=)
c.2657T= (p.Val886=)
c.959T= (p.Val320=)
c.877-1655T= (n.877-1655T=)
c.3008T= (p.Val1003=)
c.3061-1655T= (n.3061-1655T=)
c.2729T= (p.Val910=)
c.2731-1655T= (n.2731-1655T=)
c.1811T= (p.Val604=)
n.3362T=
13g.51944209A>CCA388030174ATP7Bc.*894-1655T>G (n.*894-1655T>G)
c.*1887T>G (n.*1887T>G)
c.2522T>G (p.Val841Gly)
c.3143T>G (p.Val1048Gly)
c.2810T>G (p.Val937Gly)
c.2891T>G (p.Val964Gly)
c.2909T>G (p.Val970Gly)
n.3282T>G
n.3506T>G
c.2078T>G (p.Val693Gly)
c.1853T>G (p.Val618Gly)
c.2948T>G (p.Val983Gly)
n.363T>G
c.1022-1655T>G
c.*244T>G (n.*244T>G)
n.3887T>G
n.2488T>G
c.2999T>G (p.Val1000Gly)
n.489T>G
c.3047T>G (p.Val1016Gly)
c.3107T>G (p.Val1036Gly)
c.2657T>G (p.Val886Gly)
c.959T>G (p.Val320Gly)
c.877-1655T>G (n.877-1655T>G)
c.3008T>G (p.Val1003Gly)
c.3061-1655T>G (n.3061-1655T>G)
c.2729T>G (p.Val910Gly)
c.2731-1655T>G (n.2731-1655T>G)
c.1811T>G (p.Val604Gly)
n.3362T>G
13g.51944209A>GCA388030176ATP7Bc.*894-1655T>C (n.*894-1655T>C)
c.*1887T>C (n.*1887T>C)
c.2522T>C (p.Val841Ala)
c.3143T>C (p.Val1048Ala)
c.2810T>C (p.Val937Ala)
c.2891T>C (p.Val964Ala)
c.2909T>C (p.Val970Ala)
n.3282T>C
n.3506T>C
c.2078T>C (p.Val693Ala)
c.1853T>C (p.Val618Ala)
c.2948T>C (p.Val983Ala)
n.363T>C
c.1022-1655T>C
c.*244T>C (n.*244T>C)
n.3887T>C
n.2488T>C
c.2999T>C (p.Val1000Ala)
n.489T>C
c.3047T>C (p.Val1016Ala)
c.3107T>C (p.Val1036Ala)
c.2657T>C (p.Val886Ala)
c.959T>C (p.Val320Ala)
c.877-1655T>C (n.877-1655T>C)
c.3008T>C (p.Val1003Ala)
c.3061-1655T>C (n.3061-1655T>C)
c.2729T>C (p.Val910Ala)
c.2731-1655T>C (n.2731-1655T>C)
c.1811T>C (p.Val604Ala)
n.3362T>C
13g.51944209A>TCA388030178ATP7Bc.*894-1655T>A (n.*894-1655T>A)
c.*1887T>A (n.*1887T>A)
c.2522T>A (p.Val841Glu)
c.3143T>A (p.Val1048Glu)
c.2810T>A (p.Val937Glu)
c.2891T>A (p.Val964Glu)
c.2909T>A (p.Val970Glu)
n.3282T>A
n.3506T>A
c.2078T>A (p.Val693Glu)
c.1853T>A (p.Val618Glu)
c.2948T>A (p.Val983Glu)
n.363T>A
c.1022-1655T>A
c.*244T>A (n.*244T>A)
n.3887T>A
n.2488T>A
c.2999T>A (p.Val1000Glu)
n.489T>A
c.3047T>A (p.Val1016Glu)
c.3107T>A (p.Val1036Glu)
c.2657T>A (p.Val886Glu)
c.959T>A (p.Val320Glu)
c.877-1655T>A (n.877-1655T>A)
c.3008T>A (p.Val1003Glu)
c.3061-1655T>A (n.3061-1655T>A)
c.2729T>A (p.Val910Glu)
c.2731-1655T>A (n.2731-1655T>A)
c.1811T>A (p.Val604Glu)
n.3362T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51944210C>ACA388030185ATP7Bc.*894-1656G>T (n.*894-1656G>T)
c.*1886G>T (n.*1886G>T)
c.2521G>T (p.Val841Leu)
c.3142G>T (p.Val1048Leu)
c.2809G>T (p.Val937Leu)
c.2890G>T (p.Val964Leu)
c.2908G>T (p.Val970Leu)
n.3281G>T
n.3505G>T
c.2077G>T (p.Val693Leu)
c.1852G>T (p.Val618Leu)
c.2947G>T (p.Val983Leu)
n.362G>T
c.1022-1656G>T
c.*243G>T (n.*243G>T)
n.3886G>T
n.2487G>T
c.2998G>T (p.Val1000Leu)
n.488G>T
c.3046G>T (p.Val1016Leu)
c.3106G>T (p.Val1036Leu)
c.2656G>T (p.Val886Leu)
c.958G>T (p.Val320Leu)
c.877-1656G>T (n.877-1656G>T)
c.3007G>T (p.Val1003Leu)
c.3061-1656G>T (n.3061-1656G>T)
c.2728G>T (p.Val910Leu)
c.2731-1656G>T (n.2731-1656G>T)
c.1810G>T (p.Val604Leu)
n.3361G>T
 dbSNP gnomAD v2 gnomAD v4
13g.51944210C=CA2091563995ATP7Bc.*894-1656G= (n.*894-1656G=)
c.*1886G= (n.*1886G=)
c.2521G= (p.Val841=)
c.3142G= (p.Val1048=)
c.2809G= (p.Val937=)
c.2890G= (p.Val964=)
c.2908G= (p.Val970=)
n.3281G=
n.3505G=
c.2077G= (p.Val693=)
c.1852G= (p.Val618=)
c.2947G= (p.Val983=)
n.362G=
c.1022-1656G=
c.*243G= (n.*243G=)
n.3886G=
n.2487G=
c.2998G= (p.Val1000=)
n.488G=
c.3046G= (p.Val1016=)
c.3106G= (p.Val1036=)
c.2656G= (p.Val886=)
c.958G= (p.Val320=)
c.877-1656G= (n.877-1656G=)
c.3007G= (p.Val1003=)
c.3061-1656G= (n.3061-1656G=)
c.2728G= (p.Val910=)
c.2731-1656G= (n.2731-1656G=)
c.1810G= (p.Val604=)
n.3361G=
13g.51944210C>GCA388030182ATP7Bc.*894-1656G>C (n.*894-1656G>C)
c.*1886G>C (n.*1886G>C)
c.2521G>C (p.Val841Leu)
c.3142G>C (p.Val1048Leu)
c.2809G>C (p.Val937Leu)
c.2890G>C (p.Val964Leu)
c.2908G>C (p.Val970Leu)
n.3281G>C
n.3505G>C
c.2077G>C (p.Val693Leu)
c.1852G>C (p.Val618Leu)
c.2947G>C (p.Val983Leu)
n.362G>C
c.1022-1656G>C
c.*243G>C (n.*243G>C)
n.3886G>C
n.2487G>C
c.2998G>C (p.Val1000Leu)
n.488G>C
c.3046G>C (p.Val1016Leu)
c.3106G>C (p.Val1036Leu)
c.2656G>C (p.Val886Leu)
c.958G>C (p.Val320Leu)
c.877-1656G>C (n.877-1656G>C)
c.3007G>C (p.Val1003Leu)
c.3061-1656G>C (n.3061-1656G>C)
c.2728G>C (p.Val910Leu)
c.2731-1656G>C (n.2731-1656G>C)
c.1810G>C (p.Val604Leu)
n.3361G>C
13g.51944210C>TCA388030181ATP7Bc.*894-1656G>A (n.*894-1656G>A)
c.*1886G>A (n.*1886G>A)
c.2521G>A (p.Val841Met)
c.3142G>A (p.Val1048Met)
c.2809G>A (p.Val937Met)
c.2890G>A (p.Val964Met)
c.2908G>A (p.Val970Met)
n.3281G>A
n.3505G>A
c.2077G>A (p.Val693Met)
c.1852G>A (p.Val618Met)
c.2947G>A (p.Val983Met)
n.362G>A
c.1022-1656G>A
c.*243G>A (n.*243G>A)
n.3886G>A
n.2487G>A
c.2998G>A (p.Val1000Met)
n.488G>A
c.3046G>A (p.Val1016Met)
c.3106G>A (p.Val1036Met)
c.2656G>A (p.Val886Met)
c.958G>A (p.Val320Met)
c.877-1656G>A (n.877-1656G>A)
c.3007G>A (p.Val1003Met)
c.3061-1656G>A (n.3061-1656G>A)
c.2728G>A (p.Val910Met)
c.2731-1656G>A (n.2731-1656G>A)
c.1810G>A (p.Val604Met)
n.3361G>A
 gnomAD v4
13g.51944211A=CA2091564000ATP7Bc.*894-1657T= (n.*894-1657T=)
c.*1885T= (n.*1885T=)
c.2520T= (p.Asp840=)
c.3141T= (p.Asp1047=)
c.2808T= (p.Asp936=)
c.2889T= (p.Asp963=)
c.2907T= (p.Asp969=)
n.3280T=
n.3504T=
c.2076T= (p.Asp692=)
c.1851T= (p.Asp617=)
c.2946T= (p.Asp982=)
n.361T=
c.1022-1657T=
c.*242T= (n.*242T=)
n.3885T=
n.2486T=
c.2997T= (p.Asp999=)
n.487T=
c.3045T= (p.Asp1015=)
c.3105T= (p.Asp1035=)
c.2655T= (p.Asp885=)
c.957T= (p.Asp319=)
c.877-1657T= (n.877-1657T=)
c.3006T= (p.Asp1002=)
c.3061-1657T= (n.3061-1657T=)
c.2727T= (p.Asp909=)
c.2731-1657T= (n.2731-1657T=)
c.1809T= (p.Asp603=)
n.3360T=
13g.51944211A>CCA388030191ATP7Bc.*894-1657T>G (n.*894-1657T>G)
c.*1885T>G (n.*1885T>G)
c.2520T>G (p.Asp840Glu)
c.3141T>G (p.Asp1047Glu)
c.2808T>G (p.Asp936Glu)
c.2889T>G (p.Asp963Glu)
c.2907T>G (p.Asp969Glu)
n.3280T>G
n.3504T>G
c.2076T>G (p.Asp692Glu)
c.1851T>G (p.Asp617Glu)
c.2946T>G (p.Asp982Glu)
n.361T>G
c.1022-1657T>G
c.*242T>G (n.*242T>G)
n.3885T>G
n.2486T>G
c.2997T>G (p.Asp999Glu)
n.487T>G
c.3045T>G (p.Asp1015Glu)
c.3105T>G (p.Asp1035Glu)
c.2655T>G (p.Asp885Glu)
c.957T>G (p.Asp319Glu)
c.877-1657T>G (n.877-1657T>G)
c.3006T>G (p.Asp1002Glu)
c.3061-1657T>G (n.3061-1657T>G)
c.2727T>G (p.Asp909Glu)
c.2731-1657T>G (n.2731-1657T>G)
c.1809T>G (p.Asp603Glu)
n.3360T>G
13g.51944211A>GCA483894717ATP7Bc.*894-1657T>C (n.*894-1657T>C)
c.*1885T>C (n.*1885T>C)
c.2520T>C (p.Asp840=)
c.3141T>C (p.Asp1047=)
c.2808T>C (p.Asp936=)
c.2889T>C (p.Asp963=)
c.2907T>C (p.Asp969=)
n.3280T>C
n.3504T>C
c.2076T>C (p.Asp692=)
c.1851T>C (p.Asp617=)
c.2946T>C (p.Asp982=)
n.361T>C
c.1022-1657T>C
c.*242T>C (n.*242T>C)
n.3885T>C
n.2486T>C
c.2997T>C (p.Asp999=)
n.487T>C
c.3045T>C (p.Asp1015=)
c.3105T>C (p.Asp1035=)
c.2655T>C (p.Asp885=)
c.957T>C (p.Asp319=)
c.877-1657T>C (n.877-1657T>C)
c.3006T>C (p.Asp1002=)
c.3061-1657T>C (n.3061-1657T>C)
c.2727T>C (p.Asp909=)
c.2731-1657T>C (n.2731-1657T>C)
c.1809T>C (p.Asp603=)
n.3360T>C
13g.51944211A>TCA6988798ATP7Bc.*894-1657T>A (n.*894-1657T>A)
c.*1885T>A (n.*1885T>A)
c.2520T>A (p.Asp840Glu)
c.3141T>A (p.Asp1047Glu)
c.2808T>A (p.Asp936Glu)
c.2889T>A (p.Asp963Glu)
c.2907T>A (p.Asp969Glu)
n.3280T>A
n.3504T>A
c.2076T>A (p.Asp692Glu)
c.1851T>A (p.Asp617Glu)
c.2946T>A (p.Asp982Glu)
n.361T>A
c.1022-1657T>A
c.*242T>A (n.*242T>A)
n.3885T>A
n.2486T>A
c.2997T>A (p.Asp999Glu)
n.487T>A
c.3045T>A (p.Asp1015Glu)
c.3105T>A (p.Asp1035Glu)
c.2655T>A (p.Asp885Glu)
c.957T>A (p.Asp319Glu)
c.877-1657T>A (n.877-1657T>A)
c.3006T>A (p.Asp1002Glu)
c.3061-1657T>A (n.3061-1657T>A)
c.2727T>A (p.Asp909Glu)
c.2731-1657T>A (n.2731-1657T>A)
c.1809T>A (p.Asp603Glu)
n.3360T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944212delCA2499222491ATP7Bc.*894-1658del (n.*894-1658del)
c.*1884del (n.*1884del)
c.2519del (p.Asp840ValfsTer?)
c.3140del (p.Asp1047ValfsTer?)
c.2807del (p.Asp936ValfsTer?)
c.2888del (p.Asp963ValfsTer?)
c.2906del (p.Asp969ValfsTer?)
n.3279del
n.3503del
c.2075del (p.Asp692ValfsTer?)
c.1850del (p.Asp617ValfsTer?)
c.2945del (p.Asp982ValfsTer?)
n.360del
c.1022-1658del
c.*241del (n.*241del)
n.3884del
n.2485del
c.2996del (p.Asp999ValfsTer?)
n.486del
c.3044del (p.Asp1015ValfsTer?)
c.3104del (p.Asp1035ValfsTer?)
c.2654del (p.Asp885ValfsTer?)
c.956del (p.Asp319ValfsTer?)
c.877-1658del (n.877-1658del)
c.3005del (p.Asp1002ValfsTer?)
c.3061-1658del (n.3061-1658del)
c.2726del (p.Asp909ValfsTer?)
c.2731-1658del (n.2731-1658del)
c.1808del (p.Asp603ValfsTer?)
n.3359del
 ClinVar dbSNP
13g.51944212T>ACA388030192ATP7Bc.*894-1658A>T (n.*894-1658A>T)
c.*1884A>T (n.*1884A>T)
c.2519A>T (p.Asp840Val)
c.3140A>T (p.Asp1047Val)
c.2807A>T (p.Asp936Val)
c.2888A>T (p.Asp963Val)
c.2906A>T (p.Asp969Val)
n.3279A>T
n.3503A>T
c.2075A>T (p.Asp692Val)
c.1850A>T (p.Asp617Val)
c.2945A>T (p.Asp982Val)
n.360A>T
c.1022-1658A>T
c.*241A>T (n.*241A>T)
n.3884A>T
n.2485A>T
c.2996A>T (p.Asp999Val)
n.486A>T
c.3044A>T (p.Asp1015Val)
c.3104A>T (p.Asp1035Val)
c.2654A>T (p.Asp885Val)
c.956A>T (p.Asp319Val)
c.877-1658A>T (n.877-1658A>T)
c.3005A>T (p.Asp1002Val)
c.3061-1658A>T (n.3061-1658A>T)
c.2726A>T (p.Asp909Val)
c.2731-1658A>T (n.2731-1658A>T)
c.1808A>T (p.Asp603Val)
n.3359A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51944212T>CCA388030193ATP7Bc.*894-1658A>G (n.*894-1658A>G)
c.*1884A>G (n.*1884A>G)
c.2519A>G (p.Asp840Gly)
c.3140A>G (p.Asp1047Gly)
c.2807A>G (p.Asp936Gly)
c.2888A>G (p.Asp963Gly)
c.2906A>G (p.Asp969Gly)
n.3279A>G
n.3503A>G
c.2075A>G (p.Asp692Gly)
c.1850A>G (p.Asp617Gly)
c.2945A>G (p.Asp982Gly)
n.360A>G
c.1022-1658A>G
c.*241A>G (n.*241A>G)
n.3884A>G
n.2485A>G
c.2996A>G (p.Asp999Gly)
n.486A>G
c.3044A>G (p.Asp1015Gly)
c.3104A>G (p.Asp1035Gly)
c.2654A>G (p.Asp885Gly)
c.956A>G (p.Asp319Gly)
c.877-1658A>G (n.877-1658A>G)
c.3005A>G (p.Asp1002Gly)
c.3061-1658A>G (n.3061-1658A>G)
c.2726A>G (p.Asp909Gly)
c.2731-1658A>G (n.2731-1658A>G)
c.1808A>G (p.Asp603Gly)
n.3359A>G
13g.51944212T>GCA388030194ATP7Bc.*894-1658A>C (n.*894-1658A>C)
c.*1884A>C (n.*1884A>C)
c.2519A>C (p.Asp840Ala)
c.3140A>C (p.Asp1047Ala)
c.2807A>C (p.Asp936Ala)
c.2888A>C (p.Asp963Ala)
c.2906A>C (p.Asp969Ala)
n.3279A>C
n.3503A>C
c.2075A>C (p.Asp692Ala)
c.1850A>C (p.Asp617Ala)
c.2945A>C (p.Asp982Ala)
n.360A>C
c.1022-1658A>C
c.*241A>C (n.*241A>C)
n.3884A>C
n.2485A>C
c.2996A>C (p.Asp999Ala)
n.486A>C
c.3044A>C (p.Asp1015Ala)
c.3104A>C (p.Asp1035Ala)
c.2654A>C (p.Asp885Ala)
c.956A>C (p.Asp319Ala)
c.877-1658A>C (n.877-1658A>C)
c.3005A>C (p.Asp1002Ala)
c.3061-1658A>C (n.3061-1658A>C)
c.2726A>C (p.Asp909Ala)
c.2731-1658A>C (n.2731-1658A>C)
c.1808A>C (p.Asp603Ala)
n.3359A>C
13g.51944212T=CA2091564007ATP7Bc.*894-1658A= (n.*894-1658A=)
c.*1884A= (n.*1884A=)
c.2519A= (p.Asp840=)
c.3140A= (p.Asp1047=)
c.2807A= (p.Asp936=)
c.2888A= (p.Asp963=)
c.2906A= (p.Asp969=)
n.3279A=
n.3503A=
c.2075A= (p.Asp692=)
c.1850A= (p.Asp617=)
c.2945A= (p.Asp982=)
n.360A=
c.1022-1658A=
c.*241A= (n.*241A=)
n.3884A=
n.2485A=
c.2996A= (p.Asp999=)
n.486A=
c.3044A= (p.Asp1015=)
c.3104A= (p.Asp1035=)
c.2654A= (p.Asp885=)
c.956A= (p.Asp319=)
c.877-1658A= (n.877-1658A=)
c.3005A= (p.Asp1002=)
c.3061-1658A= (n.3061-1658A=)
c.2726A= (p.Asp909=)
c.2731-1658A= (n.2731-1658A=)
c.1808A= (p.Asp603=)
n.3359A=
13g.51944212dupCA2091564004ATP7Bc.*894-1658dup (n.*894-1658dup)
c.*1884dup (n.*1884dup)
c.2519dup (p.Asp840GlufsTer22)
c.3140dup (p.Asp1047GlufsTer22)
c.2807dup (p.Asp936GlufsTer22)
c.2888dup (p.Asp963GlufsTer22)
c.2906dup (p.Asp969GlufsTer22)
n.3279dup
n.3503dup
c.2075dup (p.Asp692GlufsTer22)
c.1850dup (p.Asp617GlufsTer22)
c.2945dup (p.Asp982GlufsTer22)
n.360dup
c.1022-1658dup
c.*241dup (n.*241dup)
n.3884dup
n.2485dup
c.2996dup (p.Asp999GlufsTer22)
n.486dup
c.3044dup (p.Asp1015GlufsTer22)
c.3104dup (p.Asp1035GlufsTer22)
c.2654dup (p.Asp885GlufsTer22)
c.956dup (p.Asp319GlufsTer22)
c.877-1658dup (n.877-1658dup)
c.3005dup (p.Asp1002GlufsTer22)
c.3061-1658dup (n.3061-1658dup)
c.2726dup (p.Asp909GlufsTer22)
c.2731-1658dup (n.2731-1658dup)
c.1808dup (p.Asp603GlufsTer22)
n.3359dup
 ClinVar dbSNP
13g.51944213C>ACA388030195ATP7Bc.*894-1659G>T (n.*894-1659G>T)
c.*1883G>T (n.*1883G>T)
c.2518G>T (p.Asp840Tyr)
c.3139G>T (p.Asp1047Tyr)
c.2806G>T (p.Asp936Tyr)
c.2887G>T (p.Asp963Tyr)
c.2905G>T (p.Asp969Tyr)
n.3278G>T
n.3502G>T
c.2074G>T (p.Asp692Tyr)
c.1849G>T (p.Asp617Tyr)
c.2944G>T (p.Asp982Tyr)
n.359G>T
c.1022-1659G>T
c.*240G>T (n.*240G>T)
n.3883G>T
n.2484G>T
c.2995G>T (p.Asp999Tyr)
n.485G>T
c.3043G>T (p.Asp1015Tyr)
c.3103G>T (p.Asp1035Tyr)
c.2653G>T (p.Asp885Tyr)
c.955G>T (p.Asp319Tyr)
c.877-1659G>T (n.877-1659G>T)
c.3004G>T (p.Asp1002Tyr)
c.3061-1659G>T (n.3061-1659G>T)
c.2725G>T (p.Asp909Tyr)
c.2731-1659G>T (n.2731-1659G>T)
c.1807G>T (p.Asp603Tyr)
n.3358G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51944213C=CA2091564017ATP7Bc.*894-1659G= (n.*894-1659G=)
c.*1883G= (n.*1883G=)
c.2518G= (p.Asp840=)
c.3139G= (p.Asp1047=)
c.2806G= (p.Asp936=)
c.2887G= (p.Asp963=)
c.2905G= (p.Asp969=)
n.3278G=
n.3502G=
c.2074G= (p.Asp692=)
c.1849G= (p.Asp617=)
c.2944G= (p.Asp982=)
n.359G=
c.1022-1659G=
c.*240G= (n.*240G=)
n.3883G=
n.2484G=
c.2995G= (p.Asp999=)
n.485G=
c.3043G= (p.Asp1015=)
c.3103G= (p.Asp1035=)
c.2653G= (p.Asp885=)
c.955G= (p.Asp319=)
c.877-1659G= (n.877-1659G=)
c.3004G= (p.Asp1002=)
c.3061-1659G= (n.3061-1659G=)
c.2725G= (p.Asp909=)
c.2731-1659G= (n.2731-1659G=)
c.1807G= (p.Asp603=)
n.3358G=
13g.51944213C>GCA388030197ATP7Bc.*894-1659G>C (n.*894-1659G>C)
c.*1883G>C (n.*1883G>C)
c.2518G>C (p.Asp840His)
c.3139G>C (p.Asp1047His)
c.2806G>C (p.Asp936His)
c.2887G>C (p.Asp963His)
c.2905G>C (p.Asp969His)
n.3278G>C
n.3502G>C
c.2074G>C (p.Asp692His)
c.1849G>C (p.Asp617His)
c.2944G>C (p.Asp982His)
n.359G>C
c.1022-1659G>C
c.*240G>C (n.*240G>C)
n.3883G>C
n.2484G>C
c.2995G>C (p.Asp999His)
n.485G>C
c.3043G>C (p.Asp1015His)
c.3103G>C (p.Asp1035His)
c.2653G>C (p.Asp885His)
c.955G>C (p.Asp319His)
c.877-1659G>C (n.877-1659G>C)
c.3004G>C (p.Asp1002His)
c.3061-1659G>C (n.3061-1659G>C)
c.2725G>C (p.Asp909His)
c.2731-1659G>C (n.2731-1659G>C)
c.1807G>C (p.Asp603His)
n.3358G>C
13g.51944213C>TCA388030198ATP7Bc.*894-1659G>A (n.*894-1659G>A)
c.*1883G>A (n.*1883G>A)
c.2518G>A (p.Asp840Asn)
c.3139G>A (p.Asp1047Asn)
c.2806G>A (p.Asp936Asn)
c.2887G>A (p.Asp963Asn)
c.2905G>A (p.Asp969Asn)
n.3278G>A
n.3502G>A
c.2074G>A (p.Asp692Asn)
c.1849G>A (p.Asp617Asn)
c.2944G>A (p.Asp982Asn)
n.359G>A
c.1022-1659G>A
c.*240G>A (n.*240G>A)
n.3883G>A
n.2484G>A
c.2995G>A (p.Asp999Asn)
n.485G>A
c.3043G>A (p.Asp1015Asn)
c.3103G>A (p.Asp1035Asn)
c.2653G>A (p.Asp885Asn)
c.955G>A (p.Asp319Asn)
c.877-1659G>A (n.877-1659G>A)
c.3004G>A (p.Asp1002Asn)
c.3061-1659G>A (n.3061-1659G>A)
c.2725G>A (p.Asp909Asn)
c.2731-1659G>A (n.2731-1659G>A)
c.1807G>A (p.Asp603Asn)
n.3358G>A
 dbSNP gnomAD v3 gnomAD v4
13g.51944214C>ACA483894718ATP7Bc.*894-1660G>T (n.*894-1660G>T)
c.*1882G>T (n.*1882G>T)
c.2517G>T (p.Gly839=)
c.3138G>T (p.Gly1046=)
c.2805G>T (p.Gly935=)
c.2886G>T (p.Gly962=)
c.2904G>T (p.Gly968=)
n.3277G>T
n.3501G>T
c.2073G>T (p.Gly691=)
c.1848G>T (p.Gly616=)
c.2943G>T (p.Gly981=)
n.358G>T
c.1022-1660G>T
c.*239G>T (n.*239G>T)
n.3882G>T
n.2483G>T
c.2994G>T (p.Gly998=)
n.484G>T
c.3042G>T (p.Gly1014=)
c.3102G>T (p.Gly1034=)
c.2652G>T (p.Gly884=)
c.954G>T (p.Gly318=)
c.877-1660G>T (n.877-1660G>T)
c.3003G>T (p.Gly1001=)
c.3061-1660G>T (n.3061-1660G>T)
c.2724G>T (p.Gly908=)
c.2731-1660G>T (n.2731-1660G>T)
c.1806G>T (p.Gly602=)
n.3357G>T
13g.51944214C>GCA483894719ATP7Bc.*894-1660G>C (n.*894-1660G>C)
c.*1882G>C (n.*1882G>C)
c.2517G>C (p.Gly839=)
c.3138G>C (p.Gly1046=)
c.2805G>C (p.Gly935=)
c.2886G>C (p.Gly962=)
c.2904G>C (p.Gly968=)
n.3277G>C
n.3501G>C
c.2073G>C (p.Gly691=)
c.1848G>C (p.Gly616=)
c.2943G>C (p.Gly981=)
n.358G>C
c.1022-1660G>C
c.*239G>C (n.*239G>C)
n.3882G>C
n.2483G>C
c.2994G>C (p.Gly998=)
n.484G>C
c.3042G>C (p.Gly1014=)
c.3102G>C (p.Gly1034=)
c.2652G>C (p.Gly884=)
c.954G>C (p.Gly318=)
c.877-1660G>C (n.877-1660G>C)
c.3003G>C (p.Gly1001=)
c.3061-1660G>C (n.3061-1660G>C)
c.2724G>C (p.Gly908=)
c.2731-1660G>C (n.2731-1660G>C)
c.1806G>C (p.Gly602=)
n.3357G>C
13g.51944214C>TCA483894720ATP7Bc.*894-1660G>A (n.*894-1660G>A)
c.*1882G>A (n.*1882G>A)
c.2517G>A (p.Gly839=)
c.3138G>A (p.Gly1046=)
c.2805G>A (p.Gly935=)
c.2886G>A (p.Gly962=)
c.2904G>A (p.Gly968=)
n.3277G>A
n.3501G>A
c.2073G>A (p.Gly691=)
c.1848G>A (p.Gly616=)
c.2943G>A (p.Gly981=)
n.358G>A
c.1022-1660G>A
c.*239G>A (n.*239G>A)
n.3882G>A
n.2483G>A
c.2994G>A (p.Gly998=)
n.484G>A
c.3042G>A (p.Gly1014=)
c.3102G>A (p.Gly1034=)
c.2652G>A (p.Gly884=)
c.954G>A (p.Gly318=)
c.877-1660G>A (n.877-1660G>A)
c.3003G>A (p.Gly1001=)
c.3061-1660G>A (n.3061-1660G>A)
c.2724G>A (p.Gly908=)
c.2731-1660G>A (n.2731-1660G>A)
c.1806G>A (p.Gly602=)
n.3357G>A
 ClinVar
13g.51944215C>ACA388030203ATP7Bc.*894-1661G>T (n.*894-1661G>T)
c.*1881G>T (n.*1881G>T)
c.2516G>T (p.Gly839Val)
c.3137G>T (p.Gly1046Val)
c.2804G>T (p.Gly935Val)
c.2885G>T (p.Gly962Val)
c.2903G>T (p.Gly968Val)
n.3276G>T
n.3500G>T
c.2072G>T (p.Gly691Val)
c.1847G>T (p.Gly616Val)
c.2942G>T (p.Gly981Val)
n.357G>T
c.1022-1661G>T
c.*238G>T (n.*238G>T)
n.3881G>T
n.2482G>T
c.2993G>T (p.Gly998Val)
n.483G>T
c.3041G>T (p.Gly1014Val)
c.3101G>T (p.Gly1034Val)
c.2651G>T (p.Gly884Val)
c.953G>T (p.Gly318Val)
c.877-1661G>T (n.877-1661G>T)
c.3002G>T (p.Gly1001Val)
c.3061-1661G>T (n.3061-1661G>T)
c.2723G>T (p.Gly908Val)
c.2731-1661G>T (n.2731-1661G>T)
c.1805G>T (p.Gly602Val)
n.3356G>T
13g.51944215C>GCA388030206ATP7Bc.*894-1661G>C (n.*894-1661G>C)
c.*1881G>C (n.*1881G>C)
c.2516G>C (p.Gly839Ala)
c.3137G>C (p.Gly1046Ala)
c.2804G>C (p.Gly935Ala)
c.2885G>C (p.Gly962Ala)
c.2903G>C (p.Gly968Ala)
n.3276G>C
n.3500G>C
c.2072G>C (p.Gly691Ala)
c.1847G>C (p.Gly616Ala)
c.2942G>C (p.Gly981Ala)
n.357G>C
c.1022-1661G>C
c.*238G>C (n.*238G>C)
n.3881G>C
n.2482G>C
c.2993G>C (p.Gly998Ala)
n.483G>C
c.3041G>C (p.Gly1014Ala)
c.3101G>C (p.Gly1034Ala)
c.2651G>C (p.Gly884Ala)
c.953G>C (p.Gly318Ala)
c.877-1661G>C (n.877-1661G>C)
c.3002G>C (p.Gly1001Ala)
c.3061-1661G>C (n.3061-1661G>C)
c.2723G>C (p.Gly908Ala)
c.2731-1661G>C (n.2731-1661G>C)
c.1805G>C (p.Gly602Ala)
n.3356G>C
 gnomAD v4
13g.51944215C>TCA388030207ATP7Bc.*894-1661G>A (n.*894-1661G>A)
c.*1881G>A (n.*1881G>A)
c.2516G>A (p.Gly839Glu)
c.3137G>A (p.Gly1046Glu)
c.2804G>A (p.Gly935Glu)
c.2885G>A (p.Gly962Glu)
c.2903G>A (p.Gly968Glu)
n.3276G>A
n.3500G>A
c.2072G>A (p.Gly691Glu)
c.1847G>A (p.Gly616Glu)
c.2942G>A (p.Gly981Glu)
n.357G>A
c.1022-1661G>A
c.*238G>A (n.*238G>A)
n.3881G>A
n.2482G>A
c.2993G>A (p.Gly998Glu)
n.483G>A
c.3041G>A (p.Gly1014Glu)
c.3101G>A (p.Gly1034Glu)
c.2651G>A (p.Gly884Glu)
c.953G>A (p.Gly318Glu)
c.877-1661G>A (n.877-1661G>A)
c.3002G>A (p.Gly1001Glu)
c.3061-1661G>A (n.3061-1661G>A)
c.2723G>A (p.Gly908Glu)
c.2731-1661G>A (n.2731-1661G>A)
c.1805G>A (p.Gly602Glu)
n.3356G>A
 gnomAD v4
13g.51944216C>ACA388030214ATP7Bc.*894-1662G>T (n.*894-1662G>T)
c.*1880G>T (n.*1880G>T)
c.2515G>T (p.Gly839Trp)
c.3136G>T (p.Gly1046Trp)
c.2803G>T (p.Gly935Trp)
c.2884G>T (p.Gly962Trp)
c.2902G>T (p.Gly968Trp)
n.3275G>T
n.3499G>T
c.2071G>T (p.Gly691Trp)
c.1846G>T (p.Gly616Trp)
c.2941G>T (p.Gly981Trp)
n.356G>T
c.1022-1662G>T
c.*237G>T (n.*237G>T)
n.3880G>T
n.2481G>T
c.2992G>T (p.Gly998Trp)
n.482G>T
c.3040G>T (p.Gly1014Trp)
c.3100G>T (p.Gly1034Trp)
c.2650G>T (p.Gly884Trp)
c.952G>T (p.Gly318Trp)
c.877-1662G>T (n.877-1662G>T)
c.3001G>T (p.Gly1001Trp)
c.3061-1662G>T (n.3061-1662G>T)
c.2722G>T (p.Gly908Trp)
c.2731-1662G>T (n.2731-1662G>T)
c.1804G>T (p.Gly602Trp)
n.3355G>T
13g.51944216C>GCA388030215ATP7Bc.*894-1662G>C (n.*894-1662G>C)
c.*1880G>C (n.*1880G>C)
c.2515G>C (p.Gly839Arg)
c.3136G>C (p.Gly1046Arg)
c.2803G>C (p.Gly935Arg)
c.2884G>C (p.Gly962Arg)
c.2902G>C (p.Gly968Arg)
n.3275G>C
n.3499G>C
c.2071G>C (p.Gly691Arg)
c.1846G>C (p.Gly616Arg)
c.2941G>C (p.Gly981Arg)
n.356G>C
c.1022-1662G>C
c.*237G>C (n.*237G>C)
n.3880G>C
n.2481G>C
c.2992G>C (p.Gly998Arg)
n.482G>C
c.3040G>C (p.Gly1014Arg)
c.3100G>C (p.Gly1034Arg)
c.2650G>C (p.Gly884Arg)
c.952G>C (p.Gly318Arg)
c.877-1662G>C (n.877-1662G>C)
c.3001G>C (p.Gly1001Arg)
c.3061-1662G>C (n.3061-1662G>C)
c.2722G>C (p.Gly908Arg)
c.2731-1662G>C (n.2731-1662G>C)
c.1804G>C (p.Gly602Arg)
n.3355G>C
13g.51944216C>TCA388030208ATP7Bc.*894-1662G>A (n.*894-1662G>A)
c.*1880G>A (n.*1880G>A)
c.2515G>A (p.Gly839Arg)
c.3136G>A (p.Gly1046Arg)
c.2803G>A (p.Gly935Arg)
c.2884G>A (p.Gly962Arg)
c.2902G>A (p.Gly968Arg)
n.3275G>A
n.3499G>A
c.2071G>A (p.Gly691Arg)
c.1846G>A (p.Gly616Arg)
c.2941G>A (p.Gly981Arg)
n.356G>A
c.1022-1662G>A
c.*237G>A (n.*237G>A)
n.3880G>A
n.2481G>A
c.2992G>A (p.Gly998Arg)
n.482G>A
c.3040G>A (p.Gly1014Arg)
c.3100G>A (p.Gly1034Arg)
c.2650G>A (p.Gly884Arg)
c.952G>A (p.Gly318Arg)
c.877-1662G>A (n.877-1662G>A)
c.3001G>A (p.Gly1001Arg)
c.3061-1662G>A (n.3061-1662G>A)
c.2722G>A (p.Gly908Arg)
c.2731-1662G>A (n.2731-1662G>A)
c.1804G>A (p.Gly602Arg)
n.3355G>A
13g.51944217C>ACA483894721ATP7Bc.*894-1663G>T (n.*894-1663G>T)
c.*1879G>T (n.*1879G>T)
c.2514G>T (p.Leu838=)
c.3135G>T (p.Leu1045=)
c.2802G>T (p.Leu934=)
c.2883G>T (p.Leu961=)
c.2901G>T (p.Leu967=)
n.3274G>T
n.3498G>T
c.2070G>T (p.Leu690=)
c.1845G>T (p.Leu615=)
c.2940G>T (p.Leu980=)
n.355G>T
c.1022-1663G>T
c.*236G>T (n.*236G>T)
n.3879G>T
n.2480G>T
c.2991G>T (p.Leu997=)
n.481G>T
c.3039G>T (p.Leu1013=)
c.3099G>T (p.Leu1033=)
c.2649G>T (p.Leu883=)
c.951G>T (p.Leu317=)
c.877-1663G>T (n.877-1663G>T)
c.3000G>T (p.Leu1000=)
c.3061-1663G>T (n.3061-1663G>T)
c.2721G>T (p.Leu907=)
c.2731-1663G>T (n.2731-1663G>T)
c.1803G>T (p.Leu601=)
n.3354G>T
 gnomAD v4
13g.51944217C>GCA483894722ATP7Bc.*894-1663G>C (n.*894-1663G>C)
c.*1879G>C (n.*1879G>C)
c.2514G>C (p.Leu838=)
c.3135G>C (p.Leu1045=)
c.2802G>C (p.Leu934=)
c.2883G>C (p.Leu961=)
c.2901G>C (p.Leu967=)
n.3274G>C
n.3498G>C
c.2070G>C (p.Leu690=)
c.1845G>C (p.Leu615=)
c.2940G>C (p.Leu980=)
n.355G>C
c.1022-1663G>C
c.*236G>C (n.*236G>C)
n.3879G>C
n.2480G>C
c.2991G>C (p.Leu997=)
n.481G>C
c.3039G>C (p.Leu1013=)
c.3099G>C (p.Leu1033=)
c.2649G>C (p.Leu883=)
c.951G>C (p.Leu317=)
c.877-1663G>C (n.877-1663G>C)
c.3000G>C (p.Leu1000=)
c.3061-1663G>C (n.3061-1663G>C)
c.2721G>C (p.Leu907=)
c.2731-1663G>C (n.2731-1663G>C)
c.1803G>C (p.Leu601=)
n.3354G>C
13g.51944217C>TCA483894723ATP7Bc.*894-1663G>A (n.*894-1663G>A)
c.*1879G>A (n.*1879G>A)
c.2514G>A (p.Leu838=)
c.3135G>A (p.Leu1045=)
c.2802G>A (p.Leu934=)
c.2883G>A (p.Leu961=)
c.2901G>A (p.Leu967=)
n.3274G>A
n.3498G>A
c.2070G>A (p.Leu690=)
c.1845G>A (p.Leu615=)
c.2940G>A (p.Leu980=)
n.355G>A
c.1022-1663G>A
c.*236G>A (n.*236G>A)
n.3879G>A
n.2480G>A
c.2991G>A (p.Leu997=)
n.481G>A
c.3039G>A (p.Leu1013=)
c.3099G>A (p.Leu1033=)
c.2649G>A (p.Leu883=)
c.951G>A (p.Leu317=)
c.877-1663G>A (n.877-1663G>A)
c.3000G>A (p.Leu1000=)
c.3061-1663G>A (n.3061-1663G>A)
c.2721G>A (p.Leu907=)
c.2731-1663G>A (n.2731-1663G>A)
c.1803G>A (p.Leu601=)
n.3354G>A
13g.51944218A>CCA388030218ATP7Bc.*894-1664T>G (n.*894-1664T>G)
c.*1878T>G (n.*1878T>G)
c.2513T>G (p.Leu838Arg)
c.3134T>G (p.Leu1045Arg)
c.2801T>G (p.Leu934Arg)
c.2882T>G (p.Leu961Arg)
c.2900T>G (p.Leu967Arg)
n.3273T>G
n.3497T>G
c.2069T>G (p.Leu690Arg)
c.1844T>G (p.Leu615Arg)
c.2939T>G (p.Leu980Arg)
n.354T>G
c.1022-1664T>G
c.*235T>G (n.*235T>G)
n.3878T>G
n.2479T>G
c.2990T>G (p.Leu997Arg)
n.480T>G
c.3038T>G (p.Leu1013Arg)
c.3098T>G (p.Leu1033Arg)
c.2648T>G (p.Leu883Arg)
c.950T>G (p.Leu317Arg)
c.877-1664T>G (n.877-1664T>G)
c.2999T>G (p.Leu1000Arg)
c.3061-1664T>G (n.3061-1664T>G)
c.2720T>G (p.Leu907Arg)
c.2731-1664T>G (n.2731-1664T>G)
c.1802T>G (p.Leu601Arg)
n.3353T>G
13g.51944218A>GCA388030219ATP7Bc.*894-1664T>C (n.*894-1664T>C)
c.*1878T>C (n.*1878T>C)
c.2513T>C (p.Leu838Pro)
c.3134T>C (p.Leu1045Pro)
c.2801T>C (p.Leu934Pro)
c.2882T>C (p.Leu961Pro)
c.2900T>C (p.Leu967Pro)
n.3273T>C
n.3497T>C
c.2069T>C (p.Leu690Pro)
c.1844T>C (p.Leu615Pro)
c.2939T>C (p.Leu980Pro)
n.354T>C
c.1022-1664T>C
c.*235T>C (n.*235T>C)
n.3878T>C
n.2479T>C
c.2990T>C (p.Leu997Pro)
n.480T>C
c.3038T>C (p.Leu1013Pro)
c.3098T>C (p.Leu1033Pro)
c.2648T>C (p.Leu883Pro)
c.950T>C (p.Leu317Pro)
c.877-1664T>C (n.877-1664T>C)
c.2999T>C (p.Leu1000Pro)
c.3061-1664T>C (n.3061-1664T>C)
c.2720T>C (p.Leu907Pro)
c.2731-1664T>C (n.2731-1664T>C)
c.1802T>C (p.Leu601Pro)
n.3353T>C
13g.51944218A>TCA388030221ATP7Bc.*894-1664T>A (n.*894-1664T>A)
c.*1878T>A (n.*1878T>A)
c.2513T>A (p.Leu838Gln)
c.3134T>A (p.Leu1045Gln)
c.2801T>A (p.Leu934Gln)
c.2882T>A (p.Leu961Gln)
c.2900T>A (p.Leu967Gln)
n.3273T>A
n.3497T>A
c.2069T>A (p.Leu690Gln)
c.1844T>A (p.Leu615Gln)
c.2939T>A (p.Leu980Gln)
n.354T>A
c.1022-1664T>A
c.*235T>A (n.*235T>A)
n.3878T>A
n.2479T>A
c.2990T>A (p.Leu997Gln)
n.480T>A
c.3038T>A (p.Leu1013Gln)
c.3098T>A (p.Leu1033Gln)
c.2648T>A (p.Leu883Gln)
c.950T>A (p.Leu317Gln)
c.877-1664T>A (n.877-1664T>A)
c.2999T>A (p.Leu1000Gln)
c.3061-1664T>A (n.3061-1664T>A)
c.2720T>A (p.Leu907Gln)
c.2731-1664T>A (n.2731-1664T>A)
c.1802T>A (p.Leu601Gln)
n.3353T>A
13g.51944219G>ACA483894724ATP7Bc.*894-1665C>T (n.*894-1665C>T)
c.*1877C>T (n.*1877C>T)
c.2512C>T (p.Leu838=)
c.3133C>T (p.Leu1045=)
c.2800C>T (p.Leu934=)
c.2881C>T (p.Leu961=)
c.2899C>T (p.Leu967=)
n.3272C>T
n.3496C>T
c.2068C>T (p.Leu690=)
c.1843C>T (p.Leu615=)
c.2938C>T (p.Leu980=)
n.353C>T
c.1022-1665C>T
c.*234C>T (n.*234C>T)
n.3877C>T
n.2478C>T
c.2989C>T (p.Leu997=)
n.479C>T
c.3037C>T (p.Leu1013=)
c.3097C>T (p.Leu1033=)
c.2647C>T (p.Leu883=)
c.949C>T (p.Leu317=)
c.877-1665C>T (n.877-1665C>T)
c.2998C>T (p.Leu1000=)
c.3061-1665C>T (n.3061-1665C>T)
c.2719C>T (p.Leu907=)
c.2731-1665C>T (n.2731-1665C>T)
c.1801C>T (p.Leu601=)
n.3352C>T
13g.51944219G>CCA388030223ATP7Bc.*894-1665C>G (n.*894-1665C>G)
c.*1877C>G (n.*1877C>G)
c.2512C>G (p.Leu838Val)
c.3133C>G (p.Leu1045Val)
c.2800C>G (p.Leu934Val)
c.2881C>G (p.Leu961Val)
c.2899C>G (p.Leu967Val)
n.3272C>G
n.3496C>G
c.2068C>G (p.Leu690Val)
c.1843C>G (p.Leu615Val)
c.2938C>G (p.Leu980Val)
n.353C>G
c.1022-1665C>G
c.*234C>G (n.*234C>G)
n.3877C>G
n.2478C>G
c.2989C>G (p.Leu997Val)
n.479C>G
c.3037C>G (p.Leu1013Val)
c.3097C>G (p.Leu1033Val)
c.2647C>G (p.Leu883Val)
c.949C>G (p.Leu317Val)
c.877-1665C>G (n.877-1665C>G)
c.2998C>G (p.Leu1000Val)
c.3061-1665C>G (n.3061-1665C>G)
c.2719C>G (p.Leu907Val)
c.2731-1665C>G (n.2731-1665C>G)
c.1801C>G (p.Leu601Val)
n.3352C>G
 ClinVar gnomAD v4
13g.51944219G>TCA388030225ATP7Bc.*894-1665C>A (n.*894-1665C>A)
c.*1877C>A (n.*1877C>A)
c.2512C>A (p.Leu838Met)
c.3133C>A (p.Leu1045Met)
c.2800C>A (p.Leu934Met)
c.2881C>A (p.Leu961Met)
c.2899C>A (p.Leu967Met)
n.3272C>A
n.3496C>A
c.2068C>A (p.Leu690Met)
c.1843C>A (p.Leu615Met)
c.2938C>A (p.Leu980Met)
n.353C>A
c.1022-1665C>A
c.*234C>A (n.*234C>A)
n.3877C>A
n.2478C>A
c.2989C>A (p.Leu997Met)
n.479C>A
c.3037C>A (p.Leu1013Met)
c.3097C>A (p.Leu1033Met)
c.2647C>A (p.Leu883Met)
c.949C>A (p.Leu317Met)
c.877-1665C>A (n.877-1665C>A)
c.2998C>A (p.Leu1000Met)
c.3061-1665C>A (n.3061-1665C>A)
c.2719C>A (p.Leu907Met)
c.2731-1665C>A (n.2731-1665C>A)
c.1801C>A (p.Leu601Met)
n.3352C>A
13g.51944220C>ACA483894725ATP7Bc.*894-1666G>T (n.*894-1666G>T)
c.*1876G>T (n.*1876G>T)
c.2511G>T (p.Leu837=)
c.3132G>T (p.Leu1044=)
c.2799G>T (p.Leu933=)
c.2880G>T (p.Leu960=)
c.2898G>T (p.Leu966=)
n.3271G>T
n.3495G>T
c.2067G>T (p.Leu689=)
c.1842G>T (p.Leu614=)
c.2937G>T (p.Leu979=)
n.352G>T
c.1022-1666G>T
c.*233G>T (n.*233G>T)
n.3876G>T
n.2477G>T
c.2988G>T (p.Leu996=)
n.478G>T
c.3036G>T (p.Leu1012=)
c.3096G>T (p.Leu1032=)
c.2646G>T (p.Leu882=)
c.948G>T (p.Leu316=)
c.877-1666G>T (n.877-1666G>T)
c.2997G>T (p.Leu999=)
c.3061-1666G>T (n.3061-1666G>T)
c.2718G>T (p.Leu906=)
c.2731-1666G>T (n.2731-1666G>T)
c.1800G>T (p.Leu600=)
n.3351G>T
 ClinVar dbSNP
13g.51944220C=CA2091564020ATP7Bc.*894-1666G= (n.*894-1666G=)
c.*1876G= (n.*1876G=)
c.2511G= (p.Leu837=)
c.3132G= (p.Leu1044=)
c.2799G= (p.Leu933=)
c.2880G= (p.Leu960=)
c.2898G= (p.Leu966=)
n.3271G=
n.3495G=
c.2067G= (p.Leu689=)
c.1842G= (p.Leu614=)
c.2937G= (p.Leu979=)
n.352G=
c.1022-1666G=
c.*233G= (n.*233G=)
n.3876G=
n.2477G=
c.2988G= (p.Leu996=)
n.478G=
c.3036G= (p.Leu1012=)
c.3096G= (p.Leu1032=)
c.2646G= (p.Leu882=)
c.948G= (p.Leu316=)
c.877-1666G= (n.877-1666G=)
c.2997G= (p.Leu999=)
c.3061-1666G= (n.3061-1666G=)
c.2718G= (p.Leu906=)
c.2731-1666G= (n.2731-1666G=)
c.1800G= (p.Leu600=)
n.3351G=
13g.51944220C>GCA483894726ATP7Bc.*894-1666G>C (n.*894-1666G>C)
c.*1876G>C (n.*1876G>C)
c.2511G>C (p.Leu837=)
c.3132G>C (p.Leu1044=)
c.2799G>C (p.Leu933=)
c.2880G>C (p.Leu960=)
c.2898G>C (p.Leu966=)
n.3271G>C
n.3495G>C
c.2067G>C (p.Leu689=)
c.1842G>C (p.Leu614=)
c.2937G>C (p.Leu979=)
n.352G>C
c.1022-1666G>C
c.*233G>C (n.*233G>C)
n.3876G>C
n.2477G>C
c.2988G>C (p.Leu996=)
n.478G>C
c.3036G>C (p.Leu1012=)
c.3096G>C (p.Leu1032=)
c.2646G>C (p.Leu882=)
c.948G>C (p.Leu316=)
c.877-1666G>C (n.877-1666G>C)
c.2997G>C (p.Leu999=)
c.3061-1666G>C (n.3061-1666G>C)
c.2718G>C (p.Leu906=)
c.2731-1666G>C (n.2731-1666G>C)
c.1800G>C (p.Leu600=)
n.3351G>C
 gnomAD v4
13g.51944220C>TCA483894727ATP7Bc.*894-1666G>A (n.*894-1666G>A)
c.*1876G>A (n.*1876G>A)
c.2511G>A (p.Leu837=)
c.3132G>A (p.Leu1044=)
c.2799G>A (p.Leu933=)
c.2880G>A (p.Leu960=)
c.2898G>A (p.Leu966=)
n.3271G>A
n.3495G>A
c.2067G>A (p.Leu689=)
c.1842G>A (p.Leu614=)
c.2937G>A (p.Leu979=)
n.352G>A
c.1022-1666G>A
c.*233G>A (n.*233G>A)
n.3876G>A
n.2477G>A
c.2988G>A (p.Leu996=)
n.478G>A
c.3036G>A (p.Leu1012=)
c.3096G>A (p.Leu1032=)
c.2646G>A (p.Leu882=)
c.948G>A (p.Leu316=)
c.877-1666G>A (n.877-1666G>A)
c.2997G>A (p.Leu999=)
c.3061-1666G>A (n.3061-1666G>A)
c.2718G>A (p.Leu906=)
c.2731-1666G>A (n.2731-1666G>A)
c.1800G>A (p.Leu600=)
n.3351G>A
 gnomAD v4
13g.51944221A>CCA388030227ATP7Bc.*894-1667T>G (n.*894-1667T>G)
c.*1875T>G (n.*1875T>G)
c.2510T>G (p.Leu837Arg)
c.3131T>G (p.Leu1044Arg)
c.2798T>G (p.Leu933Arg)
c.2879T>G (p.Leu960Arg)
c.2897T>G (p.Leu966Arg)
n.3270T>G
n.3494T>G
c.2066T>G (p.Leu689Arg)
c.1841T>G (p.Leu614Arg)
c.2936T>G (p.Leu979Arg)
n.351T>G
c.1022-1667T>G
c.*232T>G (n.*232T>G)
n.3875T>G
n.2476T>G
c.2987T>G (p.Leu996Arg)
n.477T>G
c.3035T>G (p.Leu1012Arg)
c.3095T>G (p.Leu1032Arg)
c.2645T>G (p.Leu882Arg)
c.947T>G (p.Leu316Arg)
c.877-1667T>G (n.877-1667T>G)
c.2996T>G (p.Leu999Arg)
c.3061-1667T>G (n.3061-1667T>G)
c.2717T>G (p.Leu906Arg)
c.2731-1667T>G (n.2731-1667T>G)
c.1799T>G (p.Leu600Arg)
n.3350T>G
13g.51944221A>GCA388030241ATP7Bc.*894-1667T>C (n.*894-1667T>C)
c.*1875T>C (n.*1875T>C)
c.2510T>C (p.Leu837Pro)
c.3131T>C (p.Leu1044Pro)
c.2798T>C (p.Leu933Pro)
c.2879T>C (p.Leu960Pro)
c.2897T>C (p.Leu966Pro)
n.3270T>C
n.3494T>C
c.2066T>C (p.Leu689Pro)
c.1841T>C (p.Leu614Pro)
c.2936T>C (p.Leu979Pro)
n.351T>C
c.1022-1667T>C
c.*232T>C (n.*232T>C)
n.3875T>C
n.2476T>C
c.2987T>C (p.Leu996Pro)
n.477T>C
c.3035T>C (p.Leu1012Pro)
c.3095T>C (p.Leu1032Pro)
c.2645T>C (p.Leu882Pro)
c.947T>C (p.Leu316Pro)
c.877-1667T>C (n.877-1667T>C)
c.2996T>C (p.Leu999Pro)
c.3061-1667T>C (n.3061-1667T>C)
c.2717T>C (p.Leu906Pro)
c.2731-1667T>C (n.2731-1667T>C)
c.1799T>C (p.Leu600Pro)
n.3350T>C
13g.51944221A>TCA388030244ATP7Bc.*894-1667T>A (n.*894-1667T>A)
c.*1875T>A (n.*1875T>A)
c.2510T>A (p.Leu837Gln)
c.3131T>A (p.Leu1044Gln)
c.2798T>A (p.Leu933Gln)
c.2879T>A (p.Leu960Gln)
c.2897T>A (p.Leu966Gln)
n.3270T>A
n.3494T>A
c.2066T>A (p.Leu689Gln)
c.1841T>A (p.Leu614Gln)
c.2936T>A (p.Leu979Gln)
n.351T>A
c.1022-1667T>A
c.*232T>A (n.*232T>A)
n.3875T>A
n.2476T>A
c.2987T>A (p.Leu996Gln)
n.477T>A
c.3035T>A (p.Leu1012Gln)
c.3095T>A (p.Leu1032Gln)
c.2645T>A (p.Leu882Gln)
c.947T>A (p.Leu316Gln)
c.877-1667T>A (n.877-1667T>A)
c.2996T>A (p.Leu999Gln)
c.3061-1667T>A (n.3061-1667T>A)
c.2717T>A (p.Leu906Gln)
c.2731-1667T>A (n.2731-1667T>A)
c.1799T>A (p.Leu600Gln)
n.3350T>A
13g.51944222G>ACA483894728ATP7Bc.*894-1668C>T (n.*894-1668C>T)
c.*1874C>T (n.*1874C>T)
c.2509C>T (p.Leu837=)
c.3130C>T (p.Leu1044=)
c.2797C>T (p.Leu933=)
c.2878C>T (p.Leu960=)
c.2896C>T (p.Leu966=)
n.3269C>T
n.3493C>T
c.2065C>T (p.Leu689=)
c.1840C>T (p.Leu614=)
c.2935C>T (p.Leu979=)
n.350C>T
c.1022-1668C>T
c.*231C>T (n.*231C>T)
n.3874C>T
n.2475C>T
c.2986C>T (p.Leu996=)
n.476C>T
c.3034C>T (p.Leu1012=)
c.3094C>T (p.Leu1032=)
c.2644C>T (p.Leu882=)
c.946C>T (p.Leu316=)
c.877-1668C>T (n.877-1668C>T)
c.2995C>T (p.Leu999=)
c.3061-1668C>T (n.3061-1668C>T)
c.2716C>T (p.Leu906=)
c.2731-1668C>T (n.2731-1668C>T)
c.1798C>T (p.Leu600=)
n.3349C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51944222G>CCA388030248ATP7Bc.*894-1668C>G (n.*894-1668C>G)
c.*1874C>G (n.*1874C>G)
c.2509C>G (p.Leu837Val)
c.3130C>G (p.Leu1044Val)
c.2797C>G (p.Leu933Val)
c.2878C>G (p.Leu960Val)
c.2896C>G (p.Leu966Val)
n.3269C>G
n.3493C>G
c.2065C>G (p.Leu689Val)
c.1840C>G (p.Leu614Val)
c.2935C>G (p.Leu979Val)
n.350C>G
c.1022-1668C>G
c.*231C>G (n.*231C>G)
n.3874C>G
n.2475C>G
c.2986C>G (p.Leu996Val)
n.476C>G
c.3034C>G (p.Leu1012Val)
c.3094C>G (p.Leu1032Val)
c.2644C>G (p.Leu882Val)
c.946C>G (p.Leu316Val)
c.877-1668C>G (n.877-1668C>G)
c.2995C>G (p.Leu999Val)
c.3061-1668C>G (n.3061-1668C>G)
c.2716C>G (p.Leu906Val)
c.2731-1668C>G (n.2731-1668C>G)
c.1798C>G (p.Leu600Val)
n.3349C>G
 gnomAD v4
13g.51944222G=CA2091564023ATP7Bc.*894-1668C= (n.*894-1668C=)
c.*1874C= (n.*1874C=)
c.2509C= (p.Leu837=)
c.3130C= (p.Leu1044=)
c.2797C= (p.Leu933=)
c.2878C= (p.Leu960=)
c.2896C= (p.Leu966=)
n.3269C=
n.3493C=
c.2065C= (p.Leu689=)
c.1840C= (p.Leu614=)
c.2935C= (p.Leu979=)
n.350C=
c.1022-1668C=
c.*231C= (n.*231C=)
n.3874C=
n.2475C=
c.2986C= (p.Leu996=)
n.476C=
c.3034C= (p.Leu1012=)
c.3094C= (p.Leu1032=)
c.2644C= (p.Leu882=)
c.946C= (p.Leu316=)
c.877-1668C= (n.877-1668C=)
c.2995C= (p.Leu999=)
c.3061-1668C= (n.3061-1668C=)
c.2716C= (p.Leu906=)
c.2731-1668C= (n.2731-1668C=)
c.1798C= (p.Leu600=)
n.3349C=
13g.51944222G>TCA388030249ATP7Bc.*894-1668C>A (n.*894-1668C>A)
c.*1874C>A (n.*1874C>A)
c.2509C>A (p.Leu837Met)
c.3130C>A (p.Leu1044Met)
c.2797C>A (p.Leu933Met)
c.2878C>A (p.Leu960Met)
c.2896C>A (p.Leu966Met)
n.3269C>A
n.3493C>A
c.2065C>A (p.Leu689Met)
c.1840C>A (p.Leu614Met)
c.2935C>A (p.Leu979Met)
n.350C>A
c.1022-1668C>A
c.*231C>A (n.*231C>A)
n.3874C>A
n.2475C>A
c.2986C>A (p.Leu996Met)
n.476C>A
c.3034C>A (p.Leu1012Met)
c.3094C>A (p.Leu1032Met)
c.2644C>A (p.Leu882Met)
c.946C>A (p.Leu316Met)
c.877-1668C>A (n.877-1668C>A)
c.2995C>A (p.Leu999Met)
c.3061-1668C>A (n.3061-1668C>A)
c.2716C>A (p.Leu906Met)
c.2731-1668C>A (n.2731-1668C>A)
c.1798C>A (p.Leu600Met)
n.3349C>A
13g.51944223G>ACA6988799ATP7Bc.*894-1669C>T (n.*894-1669C>T)
c.*1873C>T (n.*1873C>T)
c.2508C>T (p.Leu836=)
c.3129C>T (p.Leu1043=)
c.2796C>T (p.Leu932=)
c.2877C>T (p.Leu959=)
c.2895C>T (p.Leu965=)
n.3268C>T
n.3492C>T
c.2064C>T (p.Leu688=)
c.1839C>T (p.Leu613=)
c.2934C>T (p.Leu978=)
n.349C>T
c.1022-1669C>T
c.*230C>T (n.*230C>T)
n.3873C>T
n.2474C>T
c.2985C>T (p.Leu995=)
n.475C>T
c.3033C>T (p.Leu1011=)
c.3093C>T (p.Leu1031=)
c.2643C>T (p.Leu881=)
c.945C>T (p.Leu315=)
c.877-1669C>T (n.877-1669C>T)
c.2994C>T (p.Leu998=)
c.3061-1669C>T (n.3061-1669C>T)
c.2715C>T (p.Leu905=)
c.2731-1669C>T (n.2731-1669C>T)
c.1797C>T (p.Leu599=)
n.3348C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944223G>CCA6988800ATP7Bc.*894-1669C>G (n.*894-1669C>G)
c.*1873C>G (n.*1873C>G)
c.2508C>G (p.Leu836=)
c.3129C>G (p.Leu1043=)
c.2796C>G (p.Leu932=)
c.2877C>G (p.Leu959=)
c.2895C>G (p.Leu965=)
n.3268C>G
n.3492C>G
c.2064C>G (p.Leu688=)
c.1839C>G (p.Leu613=)
c.2934C>G (p.Leu978=)
n.349C>G
c.1022-1669C>G
c.*230C>G (n.*230C>G)
n.3873C>G
n.2474C>G
c.2985C>G (p.Leu995=)
n.475C>G
c.3033C>G (p.Leu1011=)
c.3093C>G (p.Leu1031=)
c.2643C>G (p.Leu881=)
c.945C>G (p.Leu315=)
c.877-1669C>G (n.877-1669C>G)
c.2994C>G (p.Leu998=)
c.3061-1669C>G (n.3061-1669C>G)
c.2715C>G (p.Leu905=)
c.2731-1669C>G (n.2731-1669C>G)
c.1797C>G (p.Leu599=)
n.3348C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944223G=CA2091564026ATP7Bc.*894-1669C= (n.*894-1669C=)
c.*1873C= (n.*1873C=)
c.2508C= (p.Leu836=)
c.3129C= (p.Leu1043=)
c.2796C= (p.Leu932=)
c.2877C= (p.Leu959=)
c.2895C= (p.Leu965=)
n.3268C=
n.3492C=
c.2064C= (p.Leu688=)
c.1839C= (p.Leu613=)
c.2934C= (p.Leu978=)
n.349C=
c.1022-1669C=
c.*230C= (n.*230C=)
n.3873C=
n.2474C=
c.2985C= (p.Leu995=)
n.475C=
c.3033C= (p.Leu1011=)
c.3093C= (p.Leu1031=)
c.2643C= (p.Leu881=)
c.945C= (p.Leu315=)
c.877-1669C= (n.877-1669C=)
c.2994C= (p.Leu998=)
c.3061-1669C= (n.3061-1669C=)
c.2715C= (p.Leu905=)
c.2731-1669C= (n.2731-1669C=)
c.1797C= (p.Leu599=)
n.3348C=
13g.51944223G>TCA483894729ATP7Bc.*894-1669C>A (n.*894-1669C>A)
c.*1873C>A (n.*1873C>A)
c.2508C>A (p.Leu836=)
c.3129C>A (p.Leu1043=)
c.2796C>A (p.Leu932=)
c.2877C>A (p.Leu959=)
c.2895C>A (p.Leu965=)
n.3268C>A
n.3492C>A
c.2064C>A (p.Leu688=)
c.1839C>A (p.Leu613=)
c.2934C>A (p.Leu978=)
n.349C>A
c.1022-1669C>A
c.*230C>A (n.*230C>A)
n.3873C>A
n.2474C>A
c.2985C>A (p.Leu995=)
n.475C>A
c.3033C>A (p.Leu1011=)
c.3093C>A (p.Leu1031=)
c.2643C>A (p.Leu881=)
c.945C>A (p.Leu315=)
c.877-1669C>A (n.877-1669C>A)
c.2994C>A (p.Leu998=)
c.3061-1669C>A (n.3061-1669C>A)
c.2715C>A (p.Leu905=)
c.2731-1669C>A (n.2731-1669C>A)
c.1797C>A (p.Leu599=)
n.3348C>A
13g.51944224A=CA2091564034ATP7Bc.*894-1670T= (n.*894-1670T=)
c.*1872T= (n.*1872T=)
c.2507T= (p.Leu836=)
c.3128T= (p.Leu1043=)
c.2795T= (p.Leu932=)
c.2876T= (p.Leu959=)
c.2894T= (p.Leu965=)
n.3267T=
n.3491T=
c.2063T= (p.Leu688=)
c.1838T= (p.Leu613=)
c.2933T= (p.Leu978=)
n.348T=
c.1022-1670T=
c.*229T= (n.*229T=)
n.3872T=
n.2473T=
c.2984T= (p.Leu995=)
n.474T=
c.3032T= (p.Leu1011=)
c.3092T= (p.Leu1031=)
c.2642T= (p.Leu881=)
c.944T= (p.Leu315=)
c.877-1670T= (n.877-1670T=)
c.2993T= (p.Leu998=)
c.3061-1670T= (n.3061-1670T=)
c.2714T= (p.Leu905=)
c.2731-1670T= (n.2731-1670T=)
c.1796T= (p.Leu599=)
n.3347T=
13g.51944224A>CCA388030262ATP7Bc.*894-1670T>G (n.*894-1670T>G)
c.*1872T>G (n.*1872T>G)
c.2507T>G (p.Leu836Arg)
c.3128T>G (p.Leu1043Arg)
c.2795T>G (p.Leu932Arg)
c.2876T>G (p.Leu959Arg)
c.2894T>G (p.Leu965Arg)
n.3267T>G
n.3491T>G
c.2063T>G (p.Leu688Arg)
c.1838T>G (p.Leu613Arg)
c.2933T>G (p.Leu978Arg)
n.348T>G
c.1022-1670T>G
c.*229T>G (n.*229T>G)
n.3872T>G
n.2473T>G
c.2984T>G (p.Leu995Arg)
n.474T>G
c.3032T>G (p.Leu1011Arg)
c.3092T>G (p.Leu1031Arg)
c.2642T>G (p.Leu881Arg)
c.944T>G (p.Leu315Arg)
c.877-1670T>G (n.877-1670T>G)
c.2993T>G (p.Leu998Arg)
c.3061-1670T>G (n.3061-1670T>G)
c.2714T>G (p.Leu905Arg)
c.2731-1670T>G (n.2731-1670T>G)
c.1796T>G (p.Leu599Arg)
n.3347T>G
13g.51944224A>GCA388030271ATP7Bc.*894-1670T>C (n.*894-1670T>C)
c.*1872T>C (n.*1872T>C)
c.2507T>C (p.Leu836Pro)
c.3128T>C (p.Leu1043Pro)
c.2795T>C (p.Leu932Pro)
c.2876T>C (p.Leu959Pro)
c.2894T>C (p.Leu965Pro)
n.3267T>C
n.3491T>C
c.2063T>C (p.Leu688Pro)
c.1838T>C (p.Leu613Pro)
c.2933T>C (p.Leu978Pro)
n.348T>C
c.1022-1670T>C
c.*229T>C (n.*229T>C)
n.3872T>C
n.2473T>C
c.2984T>C (p.Leu995Pro)
n.474T>C
c.3032T>C (p.Leu1011Pro)
c.3092T>C (p.Leu1031Pro)
c.2642T>C (p.Leu881Pro)
c.944T>C (p.Leu315Pro)
c.877-1670T>C (n.877-1670T>C)
c.2993T>C (p.Leu998Pro)
c.3061-1670T>C (n.3061-1670T>C)
c.2714T>C (p.Leu905Pro)
c.2731-1670T>C (n.2731-1670T>C)
c.1796T>C (p.Leu599Pro)
n.3347T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51944224A>TCA388030260ATP7Bc.*894-1670T>A (n.*894-1670T>A)
c.*1872T>A (n.*1872T>A)
c.2507T>A (p.Leu836His)
c.3128T>A (p.Leu1043His)
c.2795T>A (p.Leu932His)
c.2876T>A (p.Leu959His)
c.2894T>A (p.Leu965His)
n.3267T>A
n.3491T>A
c.2063T>A (p.Leu688His)
c.1838T>A (p.Leu613His)
c.2933T>A (p.Leu978His)
n.348T>A
c.1022-1670T>A
c.*229T>A (n.*229T>A)
n.3872T>A
n.2473T>A
c.2984T>A (p.Leu995His)
n.474T>A
c.3032T>A (p.Leu1011His)
c.3092T>A (p.Leu1031His)
c.2642T>A (p.Leu881His)
c.944T>A (p.Leu315His)
c.877-1670T>A (n.877-1670T>A)
c.2993T>A (p.Leu998His)
c.3061-1670T>A (n.3061-1670T>A)
c.2714T>A (p.Leu905His)
c.2731-1670T>A (n.2731-1670T>A)
c.1796T>A (p.Leu599His)
n.3347T>A
13g.51944225G>ACA388030274ATP7Bc.*894-1671C>T (n.*894-1671C>T)
c.*1871C>T (n.*1871C>T)
c.2506C>T (p.Leu836Phe)
c.3127C>T (p.Leu1043Phe)
c.2794C>T (p.Leu932Phe)
c.2875C>T (p.Leu959Phe)
c.2893C>T (p.Leu965Phe)
n.3266C>T
n.3490C>T
c.2062C>T (p.Leu688Phe)
c.1837C>T (p.Leu613Phe)
c.2932C>T (p.Leu978Phe)
n.347C>T
c.1022-1671C>T
c.*228C>T (n.*228C>T)
n.3871C>T
n.2472C>T
c.2983C>T (p.Leu995Phe)
n.473C>T
c.3031C>T (p.Leu1011Phe)
c.3091C>T (p.Leu1031Phe)
c.2641C>T (p.Leu881Phe)
c.943C>T (p.Leu315Phe)
c.877-1671C>T (n.877-1671C>T)
c.2992C>T (p.Leu998Phe)
c.3061-1671C>T (n.3061-1671C>T)
c.2713C>T (p.Leu905Phe)
c.2731-1671C>T (n.2731-1671C>T)
c.1795C>T (p.Leu599Phe)
n.3346C>T
13g.51944225G>CCA388030276ATP7Bc.*894-1671C>G (n.*894-1671C>G)
c.*1871C>G (n.*1871C>G)
c.2506C>G (p.Leu836Val)
c.3127C>G (p.Leu1043Val)
c.2794C>G (p.Leu932Val)
c.2875C>G (p.Leu959Val)
c.2893C>G (p.Leu965Val)
n.3266C>G
n.3490C>G
c.2062C>G (p.Leu688Val)
c.1837C>G (p.Leu613Val)
c.2932C>G (p.Leu978Val)
n.347C>G
c.1022-1671C>G
c.*228C>G (n.*228C>G)
n.3871C>G
n.2472C>G
c.2983C>G (p.Leu995Val)
n.473C>G
c.3031C>G (p.Leu1011Val)
c.3091C>G (p.Leu1031Val)
c.2641C>G (p.Leu881Val)
c.943C>G (p.Leu315Val)
c.877-1671C>G (n.877-1671C>G)
c.2992C>G (p.Leu998Val)
c.3061-1671C>G (n.3061-1671C>G)
c.2713C>G (p.Leu905Val)
c.2731-1671C>G (n.2731-1671C>G)
c.1795C>G (p.Leu599Val)
n.3346C>G
13g.51944225G>TCA388030278ATP7Bc.*894-1671C>A (n.*894-1671C>A)
c.*1871C>A (n.*1871C>A)
c.2506C>A (p.Leu836Ile)
c.3127C>A (p.Leu1043Ile)
c.2794C>A (p.Leu932Ile)
c.2875C>A (p.Leu959Ile)
c.2893C>A (p.Leu965Ile)
n.3266C>A
n.3490C>A
c.2062C>A (p.Leu688Ile)
c.1837C>A (p.Leu613Ile)
c.2932C>A (p.Leu978Ile)
n.347C>A
c.1022-1671C>A
c.*228C>A (n.*228C>A)
n.3871C>A
n.2472C>A
c.2983C>A (p.Leu995Ile)
n.473C>A
c.3031C>A (p.Leu1011Ile)
c.3091C>A (p.Leu1031Ile)
c.2641C>A (p.Leu881Ile)
c.943C>A (p.Leu315Ile)
c.877-1671C>A (n.877-1671C>A)
c.2992C>A (p.Leu998Ile)
c.3061-1671C>A (n.3061-1671C>A)
c.2713C>A (p.Leu905Ile)
c.2731-1671C>A (n.2731-1671C>A)
c.1795C>A (p.Leu599Ile)
n.3346C>A
13g.51944226C>ACA483894730ATP7Bc.*894-1672G>T (n.*894-1672G>T)
c.*1870G>T (n.*1870G>T)
c.2505G>T (p.Val835=)
c.3126G>T (p.Val1042=)
c.2793G>T (p.Val931=)
c.2874G>T (p.Val958=)
c.2892G>T (p.Val964=)
n.3265G>T
n.3489G>T
c.2061G>T (p.Val687=)
c.1836G>T (p.Val612=)
c.2931G>T (p.Val977=)
n.346G>T
c.1022-1672G>T
c.*227G>T (n.*227G>T)
n.3870G>T
n.2471G>T
c.2982G>T (p.Val994=)
n.472G>T
c.3030G>T (p.Val1010=)
c.3090G>T (p.Val1030=)
c.2640G>T (p.Val880=)
c.942G>T (p.Val314=)
c.877-1672G>T (n.877-1672G>T)
c.2991G>T (p.Val997=)
c.3061-1672G>T (n.3061-1672G>T)
c.2712G>T (p.Val904=)
c.2731-1672G>T (n.2731-1672G>T)
c.1794G>T (p.Val598=)
n.3345G>T
13g.51944226C>GCA483894731ATP7Bc.*894-1672G>C (n.*894-1672G>C)
c.*1870G>C (n.*1870G>C)
c.2505G>C (p.Val835=)
c.3126G>C (p.Val1042=)
c.2793G>C (p.Val931=)
c.2874G>C (p.Val958=)
c.2892G>C (p.Val964=)
n.3265G>C
n.3489G>C
c.2061G>C (p.Val687=)
c.1836G>C (p.Val612=)
c.2931G>C (p.Val977=)
n.346G>C
c.1022-1672G>C
c.*227G>C (n.*227G>C)
n.3870G>C
n.2471G>C
c.2982G>C (p.Val994=)
n.472G>C
c.3030G>C (p.Val1010=)
c.3090G>C (p.Val1030=)
c.2640G>C (p.Val880=)
c.942G>C (p.Val314=)
c.877-1672G>C (n.877-1672G>C)
c.2991G>C (p.Val997=)
c.3061-1672G>C (n.3061-1672G>C)
c.2712G>C (p.Val904=)
c.2731-1672G>C (n.2731-1672G>C)
c.1794G>C (p.Val598=)
n.3345G>C
13g.51944226C>TCA483894732ATP7Bc.*894-1672G>A (n.*894-1672G>A)
c.*1870G>A (n.*1870G>A)
c.2505G>A (p.Val835=)
c.3126G>A (p.Val1042=)
c.2793G>A (p.Val931=)
c.2874G>A (p.Val958=)
c.2892G>A (p.Val964=)
n.3265G>A
n.3489G>A
c.2061G>A (p.Val687=)
c.1836G>A (p.Val612=)
c.2931G>A (p.Val977=)
n.346G>A
c.1022-1672G>A
c.*227G>A (n.*227G>A)
n.3870G>A
n.2471G>A
c.2982G>A (p.Val994=)
n.472G>A
c.3030G>A (p.Val1010=)
c.3090G>A (p.Val1030=)
c.2640G>A (p.Val880=)
c.942G>A (p.Val314=)
c.877-1672G>A (n.877-1672G>A)
c.2991G>A (p.Val997=)
c.3061-1672G>A (n.3061-1672G>A)
c.2712G>A (p.Val904=)
c.2731-1672G>A (n.2731-1672G>A)
c.1794G>A (p.Val598=)
n.3345G>A
 ClinVar
13g.51944227A>CCA388030280ATP7Bc.*894-1673T>G (n.*894-1673T>G)
c.*1869T>G (n.*1869T>G)
c.2504T>G (p.Val835Gly)
c.3125T>G (p.Val1042Gly)
c.2792T>G (p.Val931Gly)
c.2873T>G (p.Val958Gly)
c.2891T>G (p.Val964Gly)
n.3264T>G
n.3488T>G
c.2060T>G (p.Val687Gly)
c.1835T>G (p.Val612Gly)
c.2930T>G (p.Val977Gly)
n.345T>G
c.1022-1673T>G
c.*226T>G (n.*226T>G)
n.3869T>G
n.2470T>G
c.2981T>G (p.Val994Gly)
n.471T>G
c.3029T>G (p.Val1010Gly)
c.3089T>G (p.Val1030Gly)
c.2639T>G (p.Val880Gly)
c.941T>G (p.Val314Gly)
c.877-1673T>G (n.877-1673T>G)
c.2990T>G (p.Val997Gly)
c.3061-1673T>G (n.3061-1673T>G)
c.2711T>G (p.Val904Gly)
c.2731-1673T>G (n.2731-1673T>G)
c.1793T>G (p.Val598Gly)
n.3344T>G
13g.51944227A>GCA388030284ATP7Bc.*894-1673T>C (n.*894-1673T>C)
c.*1869T>C (n.*1869T>C)
c.2504T>C (p.Val835Ala)
c.3125T>C (p.Val1042Ala)
c.2792T>C (p.Val931Ala)
c.2873T>C (p.Val958Ala)
c.2891T>C (p.Val964Ala)
n.3264T>C
n.3488T>C
c.2060T>C (p.Val687Ala)
c.1835T>C (p.Val612Ala)
c.2930T>C (p.Val977Ala)
n.345T>C
c.1022-1673T>C
c.*226T>C (n.*226T>C)
n.3869T>C
n.2470T>C
c.2981T>C (p.Val994Ala)
n.471T>C
c.3029T>C (p.Val1010Ala)
c.3089T>C (p.Val1030Ala)
c.2639T>C (p.Val880Ala)
c.941T>C (p.Val314Ala)
c.877-1673T>C (n.877-1673T>C)
c.2990T>C (p.Val997Ala)
c.3061-1673T>C (n.3061-1673T>C)
c.2711T>C (p.Val904Ala)
c.2731-1673T>C (n.2731-1673T>C)
c.1793T>C (p.Val598Ala)
n.3344T>C
13g.51944227A>TCA388030287ATP7Bc.*894-1673T>A (n.*894-1673T>A)
c.*1869T>A (n.*1869T>A)
c.2504T>A (p.Val835Glu)
c.3125T>A (p.Val1042Glu)
c.2792T>A (p.Val931Glu)
c.2873T>A (p.Val958Glu)
c.2891T>A (p.Val964Glu)
n.3264T>A
n.3488T>A
c.2060T>A (p.Val687Glu)
c.1835T>A (p.Val612Glu)
c.2930T>A (p.Val977Glu)
n.345T>A
c.1022-1673T>A
c.*226T>A (n.*226T>A)
n.3869T>A
n.2470T>A
c.2981T>A (p.Val994Glu)
n.471T>A
c.3029T>A (p.Val1010Glu)
c.3089T>A (p.Val1030Glu)
c.2639T>A (p.Val880Glu)
c.941T>A (p.Val314Glu)
c.877-1673T>A (n.877-1673T>A)
c.2990T>A (p.Val997Glu)
c.3061-1673T>A (n.3061-1673T>A)
c.2711T>A (p.Val904Glu)
c.2731-1673T>A (n.2731-1673T>A)
c.1793T>A (p.Val598Glu)
n.3344T>A
13g.51944228C>ACA6988801ATP7Bc.*894-1674G>T (n.*894-1674G>T)
c.*1868G>T (n.*1868G>T)
c.2503G>T (p.Val835Leu)
c.3124G>T (p.Val1042Leu)
c.2791G>T (p.Val931Leu)
c.2872G>T (p.Val958Leu)
c.2890G>T (p.Val964Leu)
n.3263G>T
n.3487G>T
c.2059G>T (p.Val687Leu)
c.1834G>T (p.Val612Leu)
c.2929G>T (p.Val977Leu)
n.344G>T
c.1022-1674G>T
c.*225G>T (n.*225G>T)
n.3868G>T
n.2469G>T
c.2980G>T (p.Val994Leu)
n.470G>T
c.3028G>T (p.Val1010Leu)
c.3088G>T (p.Val1030Leu)
c.2638G>T (p.Val880Leu)
c.940G>T (p.Val314Leu)
c.877-1674G>T (n.877-1674G>T)
c.2989G>T (p.Val997Leu)
c.3061-1674G>T (n.3061-1674G>T)
c.2710G>T (p.Val904Leu)
c.2731-1674G>T (n.2731-1674G>T)
c.1792G>T (p.Val598Leu)
n.3343G>T
 dbSNP ExAC gnomAD v2
13g.51944228C=CA2091564044ATP7Bc.*894-1674G= (n.*894-1674G=)
c.*1868G= (n.*1868G=)
c.2503G= (p.Val835=)
c.3124G= (p.Val1042=)
c.2791G= (p.Val931=)
c.2872G= (p.Val958=)
c.2890G= (p.Val964=)
n.3263G=
n.3487G=
c.2059G= (p.Val687=)
c.1834G= (p.Val612=)
c.2929G= (p.Val977=)
n.344G=
c.1022-1674G=
c.*225G= (n.*225G=)
n.3868G=
n.2469G=
c.2980G= (p.Val994=)
n.470G=
c.3028G= (p.Val1010=)
c.3088G= (p.Val1030=)
c.2638G= (p.Val880=)
c.940G= (p.Val314=)
c.877-1674G= (n.877-1674G=)
c.2989G= (p.Val997=)
c.3061-1674G= (n.3061-1674G=)
c.2710G= (p.Val904=)
c.2731-1674G= (n.2731-1674G=)
c.1792G= (p.Val598=)
n.3343G=
13g.51944228C>GCA388030299ATP7Bc.*894-1674G>C (n.*894-1674G>C)
c.*1868G>C (n.*1868G>C)
c.2503G>C (p.Val835Leu)
c.3124G>C (p.Val1042Leu)
c.2791G>C (p.Val931Leu)
c.2872G>C (p.Val958Leu)
c.2890G>C (p.Val964Leu)
n.3263G>C
n.3487G>C
c.2059G>C (p.Val687Leu)
c.1834G>C (p.Val612Leu)
c.2929G>C (p.Val977Leu)
n.344G>C
c.1022-1674G>C
c.*225G>C (n.*225G>C)
n.3868G>C
n.2469G>C
c.2980G>C (p.Val994Leu)
n.470G>C
c.3028G>C (p.Val1010Leu)
c.3088G>C (p.Val1030Leu)
c.2638G>C (p.Val880Leu)
c.940G>C (p.Val314Leu)
c.877-1674G>C (n.877-1674G>C)
c.2989G>C (p.Val997Leu)
c.3061-1674G>C (n.3061-1674G>C)
c.2710G>C (p.Val904Leu)
c.2731-1674G>C (n.2731-1674G>C)
c.1792G>C (p.Val598Leu)
n.3343G>C
13g.51944228C>TCA388030296ATP7Bc.*894-1674G>A (n.*894-1674G>A)
c.*1868G>A (n.*1868G>A)
c.2503G>A (p.Val835Met)
c.3124G>A (p.Val1042Met)
c.2791G>A (p.Val931Met)
c.2872G>A (p.Val958Met)
c.2890G>A (p.Val964Met)
n.3263G>A
n.3487G>A
c.2059G>A (p.Val687Met)
c.1834G>A (p.Val612Met)
c.2929G>A (p.Val977Met)
n.344G>A
c.1022-1674G>A
c.*225G>A (n.*225G>A)
n.3868G>A
n.2469G>A
c.2980G>A (p.Val994Met)
n.470G>A
c.3028G>A (p.Val1010Met)
c.3088G>A (p.Val1030Met)
c.2638G>A (p.Val880Met)
c.940G>A (p.Val314Met)
c.877-1674G>A (n.877-1674G>A)
c.2989G>A (p.Val997Met)
c.3061-1674G>A (n.3061-1674G>A)
c.2710G>A (p.Val904Met)
c.2731-1674G>A (n.2731-1674G>A)
c.1792G>A (p.Val598Met)
n.3343G>A
13g.51944230dupCA2739277656ATP7Bc.*894-1674dup (n.*894-1674dup)
c.*1868dup (n.*1868dup)
c.2503dup (p.Val835GlyfsTer27)
c.3124dup (p.Val1042GlyfsTer27)
c.2791dup (p.Val931GlyfsTer27)
c.2872dup (p.Val958GlyfsTer27)
c.2890dup (p.Val964GlyfsTer27)
n.3263dup
n.3487dup
c.2059dup (p.Val687GlyfsTer27)
c.1834dup (p.Val612GlyfsTer27)
c.2929dup (p.Val977GlyfsTer27)
n.344dup
c.1022-1674dup
c.*225dup (n.*225dup)
n.3868dup
n.2469dup
c.2980dup (p.Val994GlyfsTer27)
n.470dup
c.3028dup (p.Val1010GlyfsTer27)
c.3088dup (p.Val1030GlyfsTer27)
c.2638dup (p.Val880GlyfsTer27)
c.940dup (p.Val314GlyfsTer27)
c.877-1674dup (n.877-1674dup)
c.2989dup (p.Val997GlyfsTer27)
c.3061-1674dup (n.3061-1674dup)
c.2710dup (p.Val904GlyfsTer27)
c.2731-1674dup (n.2731-1674dup)
c.1792dup (p.Val598GlyfsTer27)
n.3343dup
 ClinVar
13g.51944230delCA2695218745ATP7Bc.*894-1674del (n.*894-1674del)
c.*1868del (n.*1868del)
c.2503del (p.Val835CysfsTer?)
c.3124del (p.Val1042CysfsTer?)
c.2791del (p.Val931CysfsTer?)
c.2872del (p.Val958CysfsTer?)
c.2890del (p.Val964CysfsTer?)
n.3263del
n.3487del
c.2059del (p.Val687CysfsTer?)
c.1834del (p.Val612CysfsTer?)
c.2929del (p.Val977CysfsTer?)
n.344del
c.1022-1674del
c.*225del (n.*225del)
n.3868del
n.2469del
c.2980del (p.Val994CysfsTer?)
n.470del
c.3028del (p.Val1010CysfsTer?)
c.3088del (p.Val1030CysfsTer?)
c.2638del (p.Val880CysfsTer?)
c.940del (p.Val314CysfsTer?)
c.877-1674del (n.877-1674del)
c.2989del (p.Val997CysfsTer?)
c.3061-1674del (n.3061-1674del)
c.2710del (p.Val904CysfsTer?)
c.2731-1674del (n.2731-1674del)
c.1792del (p.Val598CysfsTer?)
n.3343del
13g.51944229C>ACA483894733ATP7Bc.*894-1675G>T (n.*894-1675G>T)
c.*1867G>T (n.*1867G>T)
c.2502G>T (p.Arg834=)
c.3123G>T (p.Arg1041=)
c.2790G>T (p.Arg930=)
c.2871G>T (p.Arg957=)
c.2889G>T (p.Arg963=)
n.3262G>T
n.3486G>T
c.2058G>T (p.Arg686=)
c.1833G>T (p.Arg611=)
c.2928G>T (p.Arg976=)
n.343G>T
c.1022-1675G>T
c.*224G>T (n.*224G>T)
n.3867G>T
n.2468G>T
c.2979G>T (p.Arg993=)
n.469G>T
c.3027G>T (p.Arg1009=)
c.3087G>T (p.Arg1029=)
c.2637G>T (p.Arg879=)
c.939G>T (p.Arg313=)
c.877-1675G>T (n.877-1675G>T)
c.2988G>T (p.Arg996=)
c.3061-1675G>T (n.3061-1675G>T)
c.2709G>T (p.Arg903=)
c.2731-1675G>T (n.2731-1675G>T)
c.1791G>T (p.Arg597=)
n.3342G>T
13g.51944229C=CA2091564049ATP7Bc.*894-1675G= (n.*894-1675G=)
c.*1867G= (n.*1867G=)
c.2502G= (p.Arg834=)
c.3123G= (p.Arg1041=)
c.2790G= (p.Arg930=)
c.2871G= (p.Arg957=)
c.2889G= (p.Arg963=)
n.3262G=
n.3486G=
c.2058G= (p.Arg686=)
c.1833G= (p.Arg611=)
c.2928G= (p.Arg976=)
n.343G=
c.1022-1675G=
c.*224G= (n.*224G=)
n.3867G=
n.2468G=
c.2979G= (p.Arg993=)
n.469G=
c.3027G= (p.Arg1009=)
c.3087G= (p.Arg1029=)
c.2637G= (p.Arg879=)
c.939G= (p.Arg313=)
c.877-1675G= (n.877-1675G=)
c.2988G= (p.Arg996=)
c.3061-1675G= (n.3061-1675G=)
c.2709G= (p.Arg903=)
c.2731-1675G= (n.2731-1675G=)
c.1791G= (p.Arg597=)
n.3342G=
13g.51944229C>GCA483894735ATP7Bc.*894-1675G>C (n.*894-1675G>C)
c.*1867G>C (n.*1867G>C)
c.2502G>C (p.Arg834=)
c.3123G>C (p.Arg1041=)
c.2790G>C (p.Arg930=)
c.2871G>C (p.Arg957=)
c.2889G>C (p.Arg963=)
n.3262G>C
n.3486G>C
c.2058G>C (p.Arg686=)
c.1833G>C (p.Arg611=)
c.2928G>C (p.Arg976=)
n.343G>C
c.1022-1675G>C
c.*224G>C (n.*224G>C)
n.3867G>C
n.2468G>C
c.2979G>C (p.Arg993=)
n.469G>C
c.3027G>C (p.Arg1009=)
c.3087G>C (p.Arg1029=)
c.2637G>C (p.Arg879=)
c.939G>C (p.Arg313=)
c.877-1675G>C (n.877-1675G>C)
c.2988G>C (p.Arg996=)
c.3061-1675G>C (n.3061-1675G>C)
c.2709G>C (p.Arg903=)
c.2731-1675G>C (n.2731-1675G>C)
c.1791G>C (p.Arg597=)
n.3342G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51944229C>TCA483894734ATP7Bc.*894-1675G>A (n.*894-1675G>A)
c.*1867G>A (n.*1867G>A)
c.2502G>A (p.Arg834=)
c.3123G>A (p.Arg1041=)
c.2790G>A (p.Arg930=)
c.2871G>A (p.Arg957=)
c.2889G>A (p.Arg963=)
n.3262G>A
n.3486G>A
c.2058G>A (p.Arg686=)
c.1833G>A (p.Arg611=)
c.2928G>A (p.Arg976=)
n.343G>A
c.1022-1675G>A
c.*224G>A (n.*224G>A)
n.3867G>A
n.2468G>A
c.2979G>A (p.Arg993=)
n.469G>A
c.3027G>A (p.Arg1009=)
c.3087G>A (p.Arg1029=)
c.2637G>A (p.Arg879=)
c.939G>A (p.Arg313=)
c.877-1675G>A (n.877-1675G>A)
c.2988G>A (p.Arg996=)
c.3061-1675G>A (n.3061-1675G>A)
c.2709G>A (p.Arg903=)
c.2731-1675G>A (n.2731-1675G>A)
c.1791G>A (p.Arg597=)
n.3342G>A
13g.51944230C>ACA388030302ATP7Bc.*894-1676G>T (n.*894-1676G>T)
c.*1866G>T (n.*1866G>T)
c.2501G>T (p.Arg834Leu)
c.3122G>T (p.Arg1041Leu)
c.2789G>T (p.Arg930Leu)
c.2870G>T (p.Arg957Leu)
c.2888G>T (p.Arg963Leu)
n.3261G>T
n.3485G>T
c.2057G>T (p.Arg686Leu)
c.1832G>T (p.Arg611Leu)
c.2927G>T (p.Arg976Leu)
n.342G>T
c.1022-1676G>T
c.*223G>T (n.*223G>T)
n.3866G>T
n.2467G>T
c.2978G>T (p.Arg993Leu)
n.468G>T
c.3026G>T (p.Arg1009Leu)
c.3086G>T (p.Arg1029Leu)
c.2636G>T (p.Arg879Leu)
c.938G>T (p.Arg313Leu)
c.877-1676G>T (n.877-1676G>T)
c.2987G>T (p.Arg996Leu)
c.3061-1676G>T (n.3061-1676G>T)
c.2708G>T (p.Arg903Leu)
c.2731-1676G>T (n.2731-1676G>T)
c.1790G>T (p.Arg597Leu)
n.3341G>T
 ClinVar
13g.51944230C>GCA388030304ATP7Bc.*894-1676G>C (n.*894-1676G>C)
c.*1866G>C (n.*1866G>C)
c.2501G>C (p.Arg834Pro)
c.3122G>C (p.Arg1041Pro)
c.2789G>C (p.Arg930Pro)
c.2870G>C (p.Arg957Pro)
c.2888G>C (p.Arg963Pro)
n.3261G>C
n.3485G>C
c.2057G>C (p.Arg686Pro)
c.1832G>C (p.Arg611Pro)
c.2927G>C (p.Arg976Pro)
n.342G>C
c.1022-1676G>C
c.*223G>C (n.*223G>C)
n.3866G>C
n.2467G>C
c.2978G>C (p.Arg993Pro)
n.468G>C
c.3026G>C (p.Arg1009Pro)
c.3086G>C (p.Arg1029Pro)
c.2636G>C (p.Arg879Pro)
c.938G>C (p.Arg313Pro)
c.877-1676G>C (n.877-1676G>C)
c.2987G>C (p.Arg996Pro)
c.3061-1676G>C (n.3061-1676G>C)
c.2708G>C (p.Arg903Pro)
c.2731-1676G>C (n.2731-1676G>C)
c.1790G>C (p.Arg597Pro)
n.3341G>C
 ClinVar
13g.51944230C>TCA388030306ATP7Bc.*894-1676G>A (n.*894-1676G>A)
c.*1866G>A (n.*1866G>A)
c.2501G>A (p.Arg834Gln)
c.3122G>A (p.Arg1041Gln)
c.2789G>A (p.Arg930Gln)
c.2870G>A (p.Arg957Gln)
c.2888G>A (p.Arg963Gln)
n.3261G>A
n.3485G>A
c.2057G>A (p.Arg686Gln)
c.1832G>A (p.Arg611Gln)
c.2927G>A (p.Arg976Gln)
n.342G>A
c.1022-1676G>A
c.*223G>A (n.*223G>A)
n.3866G>A
n.2467G>A
c.2978G>A (p.Arg993Gln)
n.468G>A
c.3026G>A (p.Arg1009Gln)
c.3086G>A (p.Arg1029Gln)
c.2636G>A (p.Arg879Gln)
c.938G>A (p.Arg313Gln)
c.877-1676G>A (n.877-1676G>A)
c.2987G>A (p.Arg996Gln)
c.3061-1676G>A (n.3061-1676G>A)
c.2708G>A (p.Arg903Gln)
c.2731-1676G>A (n.2731-1676G>A)
c.1790G>A (p.Arg597Gln)
n.3341G>A
 ClinVar gnomAD v4
13g.51944231G>ACA6988802ATP7Bc.*894-1677C>T (n.*894-1677C>T)
c.*1865C>T (n.*1865C>T)
c.2500C>T (p.Arg834Trp)
c.3121C>T (p.Arg1041Trp)
c.2788C>T (p.Arg930Trp)
c.2869C>T (p.Arg957Trp)
c.2887C>T (p.Arg963Trp)
n.3260C>T
n.3484C>T
c.2056C>T (p.Arg686Trp)
c.1831C>T (p.Arg611Trp)
c.2926C>T (p.Arg976Trp)
n.341C>T
c.1022-1677C>T
c.*222C>T (n.*222C>T)
n.3865C>T
n.2466C>T
c.2977C>T (p.Arg993Trp)
n.467C>T
c.3025C>T (p.Arg1009Trp)
c.3085C>T (p.Arg1029Trp)
c.2635C>T (p.Arg879Trp)
c.937C>T (p.Arg313Trp)
c.877-1677C>T (n.877-1677C>T)
c.2986C>T (p.Arg996Trp)
c.3061-1677C>T (n.3061-1677C>T)
c.2707C>T (p.Arg903Trp)
c.2731-1677C>T (n.2731-1677C>T)
c.1789C>T (p.Arg597Trp)
n.3340C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944231G>CCA6988803ATP7Bc.*894-1677C>G (n.*894-1677C>G)
c.*1865C>G (n.*1865C>G)
c.2500C>G (p.Arg834Gly)
c.3121C>G (p.Arg1041Gly)
c.2788C>G (p.Arg930Gly)
c.2869C>G (p.Arg957Gly)
c.2887C>G (p.Arg963Gly)
n.3260C>G
n.3484C>G
c.2056C>G (p.Arg686Gly)
c.1831C>G (p.Arg611Gly)
c.2926C>G (p.Arg976Gly)
n.341C>G
c.1022-1677C>G
c.*222C>G (n.*222C>G)
n.3865C>G
n.2466C>G
c.2977C>G (p.Arg993Gly)
n.467C>G
c.3025C>G (p.Arg1009Gly)
c.3085C>G (p.Arg1029Gly)
c.2635C>G (p.Arg879Gly)
c.937C>G (p.Arg313Gly)
c.877-1677C>G (n.877-1677C>G)
c.2986C>G (p.Arg996Gly)
c.3061-1677C>G (n.3061-1677C>G)
c.2707C>G (p.Arg903Gly)
c.2731-1677C>G (n.2731-1677C>G)
c.1789C>G (p.Arg597Gly)
n.3340C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944231G=CA2091564053ATP7Bc.*894-1677C= (n.*894-1677C=)
c.*1865C= (n.*1865C=)
c.2500C= (p.Arg834=)
c.3121C= (p.Arg1041=)
c.2788C= (p.Arg930=)
c.2869C= (p.Arg957=)
c.2887C= (p.Arg963=)
n.3260C=
n.3484C=
c.2056C= (p.Arg686=)
c.1831C= (p.Arg611=)
c.2926C= (p.Arg976=)
n.341C=
c.1022-1677C=
c.*222C= (n.*222C=)
n.3865C=
n.2466C=
c.2977C= (p.Arg993=)
n.467C=
c.3025C= (p.Arg1009=)
c.3085C= (p.Arg1029=)
c.2635C= (p.Arg879=)
c.937C= (p.Arg313=)
c.877-1677C= (n.877-1677C=)
c.2986C= (p.Arg996=)
c.3061-1677C= (n.3061-1677C=)
c.2707C= (p.Arg903=)
c.2731-1677C= (n.2731-1677C=)
c.1789C= (p.Arg597=)
n.3340C=
13g.51944231G>TCA483894736ATP7Bc.*894-1677C>A (n.*894-1677C>A)
c.*1865C>A (n.*1865C>A)
c.2500C>A (p.Arg834=)
c.3121C>A (p.Arg1041=)
c.2788C>A (p.Arg930=)
c.2869C>A (p.Arg957=)
c.2887C>A (p.Arg963=)
n.3260C>A
n.3484C>A
c.2056C>A (p.Arg686=)
c.1831C>A (p.Arg611=)
c.2926C>A (p.Arg976=)
n.341C>A
c.1022-1677C>A
c.*222C>A (n.*222C>A)
n.3865C>A
n.2466C>A
c.2977C>A (p.Arg993=)
n.467C>A
c.3025C>A (p.Arg1009=)
c.3085C>A (p.Arg1029=)
c.2635C>A (p.Arg879=)
c.937C>A (p.Arg313=)
c.877-1677C>A (n.877-1677C>A)
c.2986C>A (p.Arg996=)
c.3061-1677C>A (n.3061-1677C>A)
c.2707C>A (p.Arg903=)
c.2731-1677C>A (n.2731-1677C>A)
c.1789C>A (p.Arg597=)
n.3340C>A
 gnomAD v4
13g.51944232C>ACA388030315ATP7Bc.*894-1678G>T (n.*894-1678G>T)
c.*1864G>T (n.*1864G>T)
c.2499G>T (p.Met833Ile)
c.3120G>T (p.Met1040Ile)
c.2787G>T (p.Met929Ile)
c.2868G>T (p.Met956Ile)
c.2886G>T (p.Met962Ile)
n.3259G>T
n.3483G>T
c.2055G>T (p.Met685Ile)
c.1830G>T (p.Met610Ile)
c.2925G>T (p.Met975Ile)
n.340G>T
c.1022-1678G>T
c.*221G>T (n.*221G>T)
n.3864G>T
n.2465G>T
c.2976G>T (p.Met992Ile)
n.466G>T
c.3024G>T (p.Met1008Ile)
c.3084G>T (p.Met1028Ile)
c.2634G>T (p.Met878Ile)
c.936G>T (p.Met312Ile)
c.877-1678G>T (n.877-1678G>T)
c.2985G>T (p.Met995Ile)
c.3061-1678G>T (n.3061-1678G>T)
c.2706G>T (p.Met902Ile)
c.2731-1678G>T (n.2731-1678G>T)
c.1788G>T (p.Met596Ile)
n.3339G>T
13g.51944232C>GCA388030321ATP7Bc.*894-1678G>C (n.*894-1678G>C)
c.*1864G>C (n.*1864G>C)
c.2499G>C (p.Met833Ile)
c.3120G>C (p.Met1040Ile)
c.2787G>C (p.Met929Ile)
c.2868G>C (p.Met956Ile)
c.2886G>C (p.Met962Ile)
n.3259G>C
n.3483G>C
c.2055G>C (p.Met685Ile)
c.1830G>C (p.Met610Ile)
c.2925G>C (p.Met975Ile)
n.340G>C
c.1022-1678G>C
c.*221G>C (n.*221G>C)
n.3864G>C
n.2465G>C
c.2976G>C (p.Met992Ile)
n.466G>C
c.3024G>C (p.Met1008Ile)
c.3084G>C (p.Met1028Ile)
c.2634G>C (p.Met878Ile)
c.936G>C (p.Met312Ile)
c.877-1678G>C (n.877-1678G>C)
c.2985G>C (p.Met995Ile)
c.3061-1678G>C (n.3061-1678G>C)
c.2706G>C (p.Met902Ile)
c.2731-1678G>C (n.2731-1678G>C)
c.1788G>C (p.Met596Ile)
n.3339G>C
13g.51944232C>TCA388030310ATP7Bc.*894-1678G>A (n.*894-1678G>A)
c.*1864G>A (n.*1864G>A)
c.2499G>A (p.Met833Ile)
c.3120G>A (p.Met1040Ile)
c.2787G>A (p.Met929Ile)
c.2868G>A (p.Met956Ile)
c.2886G>A (p.Met962Ile)
n.3259G>A
n.3483G>A
c.2055G>A (p.Met685Ile)
c.1830G>A (p.Met610Ile)
c.2925G>A (p.Met975Ile)
n.340G>A
c.1022-1678G>A
c.*221G>A (n.*221G>A)
n.3864G>A
n.2465G>A
c.2976G>A (p.Met992Ile)
n.466G>A
c.3024G>A (p.Met1008Ile)
c.3084G>A (p.Met1028Ile)
c.2634G>A (p.Met878Ile)
c.936G>A (p.Met312Ile)
c.877-1678G>A (n.877-1678G>A)
c.2985G>A (p.Met995Ile)
c.3061-1678G>A (n.3061-1678G>A)
c.2706G>A (p.Met902Ile)
c.2731-1678G>A (n.2731-1678G>A)
c.1788G>A (p.Met596Ile)
n.3339G>A
13g.51944233A>CCA388030328ATP7Bc.*894-1679T>G (n.*894-1679T>G)
c.*1863T>G (n.*1863T>G)
c.2498T>G (p.Met833Arg)
c.3119T>G (p.Met1040Arg)
c.2786T>G (p.Met929Arg)
c.2867T>G (p.Met956Arg)
c.2885T>G (p.Met962Arg)
n.3258T>G
n.3482T>G
c.2054T>G (p.Met685Arg)
c.1829T>G (p.Met610Arg)
c.2924T>G (p.Met975Arg)
n.339T>G
c.1022-1679T>G
c.*220T>G (n.*220T>G)
n.3863T>G
n.2464T>G
c.2975T>G (p.Met992Arg)
n.465T>G
c.3023T>G (p.Met1008Arg)
c.3083T>G (p.Met1028Arg)
c.2633T>G (p.Met878Arg)
c.935T>G (p.Met312Arg)
c.877-1679T>G (n.877-1679T>G)
c.2984T>G (p.Met995Arg)
c.3061-1679T>G (n.3061-1679T>G)
c.2705T>G (p.Met902Arg)
c.2731-1679T>G (n.2731-1679T>G)
c.1787T>G (p.Met596Arg)
n.3338T>G
13g.51944233A>GCA388030324ATP7Bc.*894-1679T>C (n.*894-1679T>C)
c.*1863T>C (n.*1863T>C)
c.2498T>C (p.Met833Thr)
c.3119T>C (p.Met1040Thr)
c.2786T>C (p.Met929Thr)
c.2867T>C (p.Met956Thr)
c.2885T>C (p.Met962Thr)
n.3258T>C
n.3482T>C
c.2054T>C (p.Met685Thr)
c.1829T>C (p.Met610Thr)
c.2924T>C (p.Met975Thr)
n.339T>C
c.1022-1679T>C
c.*220T>C (n.*220T>C)
n.3863T>C
n.2464T>C
c.2975T>C (p.Met992Thr)
n.465T>C
c.3023T>C (p.Met1008Thr)
c.3083T>C (p.Met1028Thr)
c.2633T>C (p.Met878Thr)
c.935T>C (p.Met312Thr)
c.877-1679T>C (n.877-1679T>C)
c.2984T>C (p.Met995Thr)
c.3061-1679T>C (n.3061-1679T>C)
c.2705T>C (p.Met902Thr)
c.2731-1679T>C (n.2731-1679T>C)
c.1787T>C (p.Met596Thr)
n.3338T>C
13g.51944233A>TCA388030331ATP7Bc.*894-1679T>A (n.*894-1679T>A)
c.*1863T>A (n.*1863T>A)
c.2498T>A (p.Met833Lys)
c.3119T>A (p.Met1040Lys)
c.2786T>A (p.Met929Lys)
c.2867T>A (p.Met956Lys)
c.2885T>A (p.Met962Lys)
n.3258T>A
n.3482T>A
c.2054T>A (p.Met685Lys)
c.1829T>A (p.Met610Lys)
c.2924T>A (p.Met975Lys)
n.339T>A
c.1022-1679T>A
c.*220T>A (n.*220T>A)
n.3863T>A
n.2464T>A
c.2975T>A (p.Met992Lys)
n.465T>A
c.3023T>A (p.Met1008Lys)
c.3083T>A (p.Met1028Lys)
c.2633T>A (p.Met878Lys)
c.935T>A (p.Met312Lys)
c.877-1679T>A (n.877-1679T>A)
c.2984T>A (p.Met995Lys)
c.3061-1679T>A (n.3061-1679T>A)
c.2705T>A (p.Met902Lys)
c.2731-1679T>A (n.2731-1679T>A)
c.1787T>A (p.Met596Lys)
n.3338T>A
13g.51944234T>ACA388030333ATP7Bc.*894-1680A>T (n.*894-1680A>T)
c.*1862A>T (n.*1862A>T)
c.2497A>T (p.Met833Leu)
c.3118A>T (p.Met1040Leu)
c.2785A>T (p.Met929Leu)
c.2866A>T (p.Met956Leu)
c.2884A>T (p.Met962Leu)
n.3257A>T
n.3481A>T
c.2053A>T (p.Met685Leu)
c.1828A>T (p.Met610Leu)
c.2923A>T (p.Met975Leu)
n.338A>T
c.1022-1680A>T
c.*219A>T (n.*219A>T)
n.3862A>T
n.2463A>T
c.2974A>T (p.Met992Leu)
n.464A>T
c.3022A>T (p.Met1008Leu)
c.3082A>T (p.Met1028Leu)
c.2632A>T (p.Met878Leu)
c.934A>T (p.Met312Leu)
c.877-1680A>T (n.877-1680A>T)
c.2983A>T (p.Met995Leu)
c.3061-1680A>T (n.3061-1680A>T)
c.2704A>T (p.Met902Leu)
c.2731-1680A>T (n.2731-1680A>T)
c.1786A>T (p.Met596Leu)
n.3337A>T
 ClinVar
13g.51944234T>CCA388030336ATP7Bc.*894-1680A>G (n.*894-1680A>G)
c.*1862A>G (n.*1862A>G)
c.2497A>G (p.Met833Val)
c.3118A>G (p.Met1040Val)
c.2785A>G (p.Met929Val)
c.2866A>G (p.Met956Val)
c.2884A>G (p.Met962Val)
n.3257A>G
n.3481A>G
c.2053A>G (p.Met685Val)
c.1828A>G (p.Met610Val)
c.2923A>G (p.Met975Val)
n.338A>G
c.1022-1680A>G
c.*219A>G (n.*219A>G)
n.3862A>G
n.2463A>G
c.2974A>G (p.Met992Val)
n.464A>G
c.3022A>G (p.Met1008Val)
c.3082A>G (p.Met1028Val)
c.2632A>G (p.Met878Val)
c.934A>G (p.Met312Val)
c.877-1680A>G (n.877-1680A>G)
c.2983A>G (p.Met995Val)
c.3061-1680A>G (n.3061-1680A>G)
c.2704A>G (p.Met902Val)
c.2731-1680A>G (n.2731-1680A>G)
c.1786A>G (p.Met596Val)
n.3337A>G
 gnomAD v4
13g.51944234T>GCA388030341ATP7Bc.*894-1680A>C (n.*894-1680A>C)
c.*1862A>C (n.*1862A>C)
c.2497A>C (p.Met833Leu)
c.3118A>C (p.Met1040Leu)
c.2785A>C (p.Met929Leu)
c.2866A>C (p.Met956Leu)
c.2884A>C (p.Met962Leu)
n.3257A>C
n.3481A>C
c.2053A>C (p.Met685Leu)
c.1828A>C (p.Met610Leu)
c.2923A>C (p.Met975Leu)
n.338A>C
c.1022-1680A>C
c.*219A>C (n.*219A>C)
n.3862A>C
n.2463A>C
c.2974A>C (p.Met992Leu)
n.464A>C
c.3022A>C (p.Met1008Leu)
c.3082A>C (p.Met1028Leu)
c.2632A>C (p.Met878Leu)
c.934A>C (p.Met312Leu)
c.877-1680A>C (n.877-1680A>C)
c.2983A>C (p.Met995Leu)
c.3061-1680A>C (n.3061-1680A>C)
c.2704A>C (p.Met902Leu)
c.2731-1680A>C (n.2731-1680A>C)
c.1786A>C (p.Met596Leu)
n.3337A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51944234T=CA2091564062ATP7Bc.*894-1680A= (n.*894-1680A=)
c.*1862A= (n.*1862A=)
c.2497A= (p.Met833=)
c.3118A= (p.Met1040=)
c.2785A= (p.Met929=)
c.2866A= (p.Met956=)
c.2884A= (p.Met962=)
n.3257A=
n.3481A=
c.2053A= (p.Met685=)
c.1828A= (p.Met610=)
c.2923A= (p.Met975=)
n.338A=
c.1022-1680A=
c.*219A= (n.*219A=)
n.3862A=
n.2463A=
c.2974A= (p.Met992=)
n.464A=
c.3022A= (p.Met1008=)
c.3082A= (p.Met1028=)
c.2632A= (p.Met878=)
c.934A= (p.Met312=)
c.877-1680A= (n.877-1680A=)
c.2983A= (p.Met995=)
c.3061-1680A= (n.3061-1680A=)
c.2704A= (p.Met902=)
c.2731-1680A= (n.2731-1680A=)
c.1786A= (p.Met596=)
n.3337A=
13g.51944234_51944243delinsTGACCCTGGGCA2091564059ATP7Bc.*894-1689_*894-1680delinsCCCAGGGTCA (n.*894-1689_*894-1680delinsCCCAGGGTCA)
c.*1853_*1862delinsCCCAGGGTCA (n.*1853_*1862delinsCCCAGGGTCA)
c.2488_2497delinsCCCAGGGTCA (p.Pro830=)
c.3109_3118delinsCCCAGGGTCA (p.Pro1037=)
c.2776_2785delinsCCCAGGGTCA (p.Pro926=)
c.2857_2866delinsCCCAGGGTCA (p.Pro953=)
c.2875_2884delinsCCCAGGGTCA (p.Pro959=)
n.3248_3257delinsCCCAGGGTCA
n.3472_3481delinsCCCAGGGTCA
c.2044_2053delinsCCCAGGGTCA (p.Pro682=)
c.1819_1828delinsCCCAGGGTCA (p.Pro607=)
c.2914_2923delinsCCCAGGGTCA (p.Pro972=)
n.329_338delinsCCCAGGGTCA
c.1022-1689_1022-1680delinsCCCAGGGTCA
c.*210_*219delinsCCCAGGGTCA (n.*210_*219delinsCCCAGGGTCA)
n.3853_3862delinsCCCAGGGTCA
n.2454_2463delinsCCCAGGGTCA
c.2965_2974delinsCCCAGGGTCA (p.Pro989=)
n.455_464delinsCCCAGGGTCA
c.3013_3022delinsCCCAGGGTCA (p.Pro1005=)
c.3073_3082delinsCCCAGGGTCA (p.Pro1025=)
c.2623_2632delinsCCCAGGGTCA (p.Pro875=)
c.925_934delinsCCCAGGGTCA (p.Pro309=)
c.877-1689_877-1680delinsCCCAGGGTCA (n.877-1689_877-1680delinsCCCAGGGTCA)
c.2974_2983delinsCCCAGGGTCA (p.Pro992=)
c.3061-1689_3061-1680delinsCCCAGGGTCA (n.3061-1689_3061-1680delinsCCCAGGGTCA)
c.2695_2704delinsCCCAGGGTCA (p.Pro899=)
c.2731-1689_2731-1680delinsCCCAGGGTCA (n.2731-1689_2731-1680delinsCCCAGGGTCA)
c.1777_1786delinsCCCAGGGTCA (p.Pro593=)
n.3328_3337delinsCCCAGGGTCA
13g.51944235G>ACA483894737ATP7Bc.*894-1681C>T (n.*894-1681C>T)
c.*1861C>T (n.*1861C>T)
c.2496C>T (p.Val832=)
c.3117C>T (p.Val1039=)
c.2784C>T (p.Val928=)
c.2865C>T (p.Val955=)
c.2883C>T (p.Val961=)
n.3256C>T
n.3480C>T
c.2052C>T (p.Val684=)
c.1827C>T (p.Val609=)
c.2922C>T (p.Val974=)
n.337C>T
c.1022-1681C>T
c.*218C>T (n.*218C>T)
n.3861C>T
n.2462C>T
c.2973C>T (p.Val991=)
n.463C>T
c.3021C>T (p.Val1007=)
c.3081C>T (p.Val1027=)
c.2631C>T (p.Val877=)
c.933C>T (p.Val311=)
c.877-1681C>T (n.877-1681C>T)
c.2982C>T (p.Val994=)
c.3061-1681C>T (n.3061-1681C>T)
c.2703C>T (p.Val901=)
c.2731-1681C>T (n.2731-1681C>T)
c.1785C>T (p.Val595=)
n.3336C>T
 ClinVar dbSNP
13g.51944235G>CCA483894738ATP7Bc.*894-1681C>G (n.*894-1681C>G)
c.*1861C>G (n.*1861C>G)
c.2496C>G (p.Val832=)
c.3117C>G (p.Val1039=)
c.2784C>G (p.Val928=)
c.2865C>G (p.Val955=)
c.2883C>G (p.Val961=)
n.3256C>G
n.3480C>G
c.2052C>G (p.Val684=)
c.1827C>G (p.Val609=)
c.2922C>G (p.Val974=)
n.337C>G
c.1022-1681C>G
c.*218C>G (n.*218C>G)
n.3861C>G
n.2462C>G
c.2973C>G (p.Val991=)
n.463C>G
c.3021C>G (p.Val1007=)
c.3081C>G (p.Val1027=)
c.2631C>G (p.Val877=)
c.933C>G (p.Val311=)
c.877-1681C>G (n.877-1681C>G)
c.2982C>G (p.Val994=)
c.3061-1681C>G (n.3061-1681C>G)
c.2703C>G (p.Val901=)
c.2731-1681C>G (n.2731-1681C>G)
c.1785C>G (p.Val595=)
n.3336C>G
13g.51944235G>TCA483894739ATP7Bc.*894-1681C>A (n.*894-1681C>A)
c.*1861C>A (n.*1861C>A)
c.2496C>A (p.Val832=)
c.3117C>A (p.Val1039=)
c.2784C>A (p.Val928=)
c.2865C>A (p.Val955=)
c.2883C>A (p.Val961=)
n.3256C>A
n.3480C>A
c.2052C>A (p.Val684=)
c.1827C>A (p.Val609=)
c.2922C>A (p.Val974=)
n.337C>A
c.1022-1681C>A
c.*218C>A (n.*218C>A)
n.3861C>A
n.2462C>A
c.2973C>A (p.Val991=)
n.463C>A
c.3021C>A (p.Val1007=)
c.3081C>A (p.Val1027=)
c.2631C>A (p.Val877=)
c.933C>A (p.Val311=)
c.877-1681C>A (n.877-1681C>A)
c.2982C>A (p.Val994=)
c.3061-1681C>A (n.3061-1681C>A)
c.2703C>A (p.Val901=)
c.2731-1681C>A (n.2731-1681C>A)
c.1785C>A (p.Val595=)
n.3336C>A
 COSMIC
13g.51944238_51944246delCA610425797ATP7Bc.*894-1689_*894-1681del (n.*894-1689_*894-1681del)
c.*1853_*1861del (n.*1853_*1861del)
c.2488_2496del (p.Pro830_Val832del)
c.3109_3117del (p.Pro1037_Val1039del)
c.2776_2784del (p.Pro926_Val928del)
c.2857_2865del (p.Pro953_Val955del)
c.2875_2883del (p.Pro959_Val961del)
n.3248_3256del
n.3472_3480del
c.2044_2052del (p.Pro682_Val684del)
c.1819_1827del (p.Pro607_Val609del)
c.2914_2922del (p.Pro972_Val974del)
n.329_337del
c.1022-1689_1022-1681del
c.*210_*218del (n.*210_*218del)
n.3853_3861del
n.2454_2462del
c.2965_2973del (p.Pro989_Val991del)
n.455_463del
c.3013_3021del (p.Pro1005_Val1007del)
c.3073_3081del (p.Pro1025_Val1027del)
c.2623_2631del (p.Pro875_Val877del)
c.925_933del (p.Pro309_Val311del)
c.877-1689_877-1681del (n.877-1689_877-1681del)
c.2974_2982del (p.Pro992_Val994del)
c.3061-1689_3061-1681del (n.3061-1689_3061-1681del)
c.2695_2703del (p.Pro899_Val901del)
c.2731-1689_2731-1681del (n.2731-1689_2731-1681del)
c.1777_1785del (p.Pro593_Val595del)
n.3328_3336del
 dbSNP gnomAD v2 gnomAD v4
13g.51944236A>CCA388030342ATP7Bc.*894-1682T>G (n.*894-1682T>G)
c.*1860T>G (n.*1860T>G)
c.2495T>G (p.Val832Gly)
c.3116T>G (p.Val1039Gly)
c.2783T>G (p.Val928Gly)
c.2864T>G (p.Val955Gly)
c.2882T>G (p.Val961Gly)
n.3255T>G
n.3479T>G
c.2051T>G (p.Val684Gly)
c.1826T>G (p.Val609Gly)
c.2921T>G (p.Val974Gly)
n.336T>G
c.1022-1682T>G
c.*217T>G (n.*217T>G)
n.3860T>G
n.2461T>G
c.2972T>G (p.Val991Gly)
n.462T>G
c.3020T>G (p.Val1007Gly)
c.3080T>G (p.Val1027Gly)
c.2630T>G (p.Val877Gly)
c.932T>G (p.Val311Gly)
c.877-1682T>G (n.877-1682T>G)
c.2981T>G (p.Val994Gly)
c.3061-1682T>G (n.3061-1682T>G)
c.2702T>G (p.Val901Gly)
c.2731-1682T>G (n.2731-1682T>G)
c.1784T>G (p.Val595Gly)
n.3335T>G
13g.51944236A>GCA388030343ATP7Bc.*894-1682T>C (n.*894-1682T>C)
c.*1860T>C (n.*1860T>C)
c.2495T>C (p.Val832Ala)
c.3116T>C (p.Val1039Ala)
c.2783T>C (p.Val928Ala)
c.2864T>C (p.Val955Ala)
c.2882T>C (p.Val961Ala)
n.3255T>C
n.3479T>C
c.2051T>C (p.Val684Ala)
c.1826T>C (p.Val609Ala)
c.2921T>C (p.Val974Ala)
n.336T>C
c.1022-1682T>C
c.*217T>C (n.*217T>C)
n.3860T>C
n.2461T>C
c.2972T>C (p.Val991Ala)
n.462T>C
c.3020T>C (p.Val1007Ala)
c.3080T>C (p.Val1027Ala)
c.2630T>C (p.Val877Ala)
c.932T>C (p.Val311Ala)
c.877-1682T>C (n.877-1682T>C)
c.2981T>C (p.Val994Ala)
c.3061-1682T>C (n.3061-1682T>C)
c.2702T>C (p.Val901Ala)
c.2731-1682T>C (n.2731-1682T>C)
c.1784T>C (p.Val595Ala)
n.3335T>C
13g.51944236A>TCA388030344ATP7Bc.*894-1682T>A (n.*894-1682T>A)
c.*1860T>A (n.*1860T>A)
c.2495T>A (p.Val832Asp)
c.3116T>A (p.Val1039Asp)
c.2783T>A (p.Val928Asp)
c.2864T>A (p.Val955Asp)
c.2882T>A (p.Val961Asp)
n.3255T>A
n.3479T>A
c.2051T>A (p.Val684Asp)
c.1826T>A (p.Val609Asp)
c.2921T>A (p.Val974Asp)
n.336T>A
c.1022-1682T>A
c.*217T>A (n.*217T>A)
n.3860T>A
n.2461T>A
c.2972T>A (p.Val991Asp)
n.462T>A
c.3020T>A (p.Val1007Asp)
c.3080T>A (p.Val1027Asp)
c.2630T>A (p.Val877Asp)
c.932T>A (p.Val311Asp)
c.877-1682T>A (n.877-1682T>A)
c.2981T>A (p.Val994Asp)
c.3061-1682T>A (n.3061-1682T>A)
c.2702T>A (p.Val901Asp)
c.2731-1682T>A (n.2731-1682T>A)
c.1784T>A (p.Val595Asp)
n.3335T>A
13g.51944237C>ACA388030345ATP7Bc.*894-1683G>T (n.*894-1683G>T)
c.*1859G>T (n.*1859G>T)
c.2494G>T (p.Val832Phe)
c.3115G>T (p.Val1039Phe)
c.2782G>T (p.Val928Phe)
c.2863G>T (p.Val955Phe)
c.2881G>T (p.Val961Phe)
n.3254G>T
n.3478G>T
c.2050G>T (p.Val684Phe)
c.1825G>T (p.Val609Phe)
c.2920G>T (p.Val974Phe)
n.335G>T
c.1022-1683G>T
c.*216G>T (n.*216G>T)
n.3859G>T
n.2460G>T
c.2971G>T (p.Val991Phe)
n.461G>T
c.3019G>T (p.Val1007Phe)
c.3079G>T (p.Val1027Phe)
c.2629G>T (p.Val877Phe)
c.931G>T (p.Val311Phe)
c.877-1683G>T (n.877-1683G>T)
c.2980G>T (p.Val994Phe)
c.3061-1683G>T (n.3061-1683G>T)
c.2701G>T (p.Val901Phe)
c.2731-1683G>T (n.2731-1683G>T)
c.1783G>T (p.Val595Phe)
n.3334G>T
13g.51944237C>GCA388030348ATP7Bc.*894-1683G>C (n.*894-1683G>C)
c.*1859G>C (n.*1859G>C)
c.2494G>C (p.Val832Leu)
c.3115G>C (p.Val1039Leu)
c.2782G>C (p.Val928Leu)
c.2863G>C (p.Val955Leu)
c.2881G>C (p.Val961Leu)
n.3254G>C
n.3478G>C
c.2050G>C (p.Val684Leu)
c.1825G>C (p.Val609Leu)
c.2920G>C (p.Val974Leu)
n.335G>C
c.1022-1683G>C
c.*216G>C (n.*216G>C)
n.3859G>C
n.2460G>C
c.2971G>C (p.Val991Leu)
n.461G>C
c.3019G>C (p.Val1007Leu)
c.3079G>C (p.Val1027Leu)
c.2629G>C (p.Val877Leu)
c.931G>C (p.Val311Leu)
c.877-1683G>C (n.877-1683G>C)
c.2980G>C (p.Val994Leu)
c.3061-1683G>C (n.3061-1683G>C)
c.2701G>C (p.Val901Leu)
c.2731-1683G>C (n.2731-1683G>C)
c.1783G>C (p.Val595Leu)
n.3334G>C
13g.51944237C>TCA388030354ATP7Bc.*894-1683G>A (n.*894-1683G>A)
c.*1859G>A (n.*1859G>A)
c.2494G>A (p.Val832Ile)
c.3115G>A (p.Val1039Ile)
c.2782G>A (p.Val928Ile)
c.2863G>A (p.Val955Ile)
c.2881G>A (p.Val961Ile)
n.3254G>A
n.3478G>A
c.2050G>A (p.Val684Ile)
c.1825G>A (p.Val609Ile)
c.2920G>A (p.Val974Ile)
n.335G>A
c.1022-1683G>A
c.*216G>A (n.*216G>A)
n.3859G>A
n.2460G>A
c.2971G>A (p.Val991Ile)
n.461G>A
c.3019G>A (p.Val1007Ile)
c.3079G>A (p.Val1027Ile)
c.2629G>A (p.Val877Ile)
c.931G>A (p.Val311Ile)
c.877-1683G>A (n.877-1683G>A)
c.2980G>A (p.Val994Ile)
c.3061-1683G>A (n.3061-1683G>A)
c.2701G>A (p.Val901Ile)
c.2731-1683G>A (n.2731-1683G>A)
c.1783G>A (p.Val595Ile)
n.3334G>A
13g.51944239delCA2695218747ATP7Bc.*894-1683del (n.*894-1683del)
c.*1859del (n.*1859del)
c.2494del (p.Val832SerfsTer?)
c.3115del (p.Val1039SerfsTer?)
c.2782del (p.Val928SerfsTer?)
c.2863del (p.Val955SerfsTer?)
c.2881del (p.Val961SerfsTer?)
n.3254del
n.3478del
c.2050del (p.Val684SerfsTer?)
c.1825del (p.Val609SerfsTer?)
c.2920del (p.Val974SerfsTer?)
n.335del
c.1022-1683del
c.*216del (n.*216del)
n.3859del
n.2460del
c.2971del (p.Val991SerfsTer?)
n.461del
c.3019del (p.Val1007SerfsTer?)
c.3079del (p.Val1027SerfsTer?)
c.2629del (p.Val877SerfsTer?)
c.931del (p.Val311SerfsTer?)
c.877-1683del (n.877-1683del)
c.2980del (p.Val994SerfsTer?)
c.3061-1683del (n.3061-1683del)
c.2701del (p.Val901SerfsTer?)
c.2731-1683del (n.2731-1683del)
c.1783del (p.Val595SerfsTer?)
n.3334del
13g.51944237_51944253delCA2575420443ATP7Bc.*894-1699_*894-1683del (n.*894-1699_*894-1683del)
c.*1843_*1859del (n.*1843_*1859del)
c.2478_2494del (p.Gly828AlafsTer28)
c.3099_3115del (p.Gly1035AlafsTer28)
c.2766_2782del (p.Gly924AlafsTer28)
c.2847_2863del (p.Gly951AlafsTer28)
c.2865_2881del (p.Gly957AlafsTer28)
n.3238_3254del
n.3462_3478del
c.2034_2050del (p.Gly680AlafsTer28)
c.1809_1825del (p.Gly605AlafsTer28)
c.2904_2920del (p.Gly970AlafsTer28)
n.319_335del
c.1022-1699_1022-1683del
c.*200_*216del (n.*200_*216del)
n.3843_3859del
n.2444_2460del
c.2955_2971del (p.Gly987AlafsTer28)
n.445_461del
c.3003_3019del (p.Gly1003AlafsTer28)
c.3063_3079del (p.Gly1023AlafsTer28)
c.2613_2629del (p.Gly873AlafsTer28)
c.915_931del (p.Gly307AlafsTer28)
c.877-1699_877-1683del (n.877-1699_877-1683del)
c.2964_2980del (p.Gly990AlafsTer28)
c.3061-1699_3061-1683del (n.3061-1699_3061-1683del)
c.2685_2701del (p.Gly897AlafsTer28)
c.2731-1699_2731-1683del (n.2731-1699_2731-1683del)
c.1767_1783del (p.Gly591AlafsTer28)
n.3318_3334del
13g.51944238C>ACA388030361ATP7Bc.*894-1684G>T (n.*894-1684G>T)
c.*1858G>T (n.*1858G>T)
c.2493G>T (p.Arg831Ser)
c.3114G>T (p.Arg1038Ser)
c.2781G>T (p.Arg927Ser)
c.2862G>T (p.Arg954Ser)
c.2880G>T (p.Arg960Ser)
n.3253G>T
n.3477G>T
c.2049G>T (p.Arg683Ser)
c.1824G>T (p.Arg608Ser)
c.2919G>T (p.Arg973Ser)
n.334G>T
c.1022-1684G>T
c.*215G>T (n.*215G>T)
n.3858G>T
n.2459G>T
c.2970G>T (p.Arg990Ser)
n.460G>T
c.3018G>T (p.Arg1006Ser)
c.3078G>T (p.Arg1026Ser)
c.2628G>T (p.Arg876Ser)
c.930G>T (p.Arg310Ser)
c.877-1684G>T (n.877-1684G>T)
c.2979G>T (p.Arg993Ser)
c.3061-1684G>T (n.3061-1684G>T)
c.2700G>T (p.Arg900Ser)
c.2731-1684G>T (n.2731-1684G>T)
c.1782G>T (p.Arg594Ser)
n.3333G>T
13g.51944238C=CA2091564071ATP7Bc.*894-1684G= (n.*894-1684G=)
c.*1858G= (n.*1858G=)
c.2493G= (p.Arg831=)
c.3114G= (p.Arg1038=)
c.2781G= (p.Arg927=)
c.2862G= (p.Arg954=)
c.2880G= (p.Arg960=)
n.3253G=
n.3477G=
c.2049G= (p.Arg683=)
c.1824G= (p.Arg608=)
c.2919G= (p.Arg973=)
n.334G=
c.1022-1684G=
c.*215G= (n.*215G=)
n.3858G=
n.2459G=
c.2970G= (p.Arg990=)
n.460G=
c.3018G= (p.Arg1006=)
c.3078G= (p.Arg1026=)
c.2628G= (p.Arg876=)
c.930G= (p.Arg310=)
c.877-1684G= (n.877-1684G=)
c.2979G= (p.Arg993=)
c.3061-1684G= (n.3061-1684G=)
c.2700G= (p.Arg900=)
c.2731-1684G= (n.2731-1684G=)
c.1782G= (p.Arg594=)
n.3333G=
13g.51944238C>GCA388030363ATP7Bc.*894-1684G>C (n.*894-1684G>C)
c.*1858G>C (n.*1858G>C)
c.2493G>C (p.Arg831Ser)
c.3114G>C (p.Arg1038Ser)
c.2781G>C (p.Arg927Ser)
c.2862G>C (p.Arg954Ser)
c.2880G>C (p.Arg960Ser)
n.3253G>C
n.3477G>C
c.2049G>C (p.Arg683Ser)
c.1824G>C (p.Arg608Ser)
c.2919G>C (p.Arg973Ser)
n.334G>C
c.1022-1684G>C
c.*215G>C (n.*215G>C)
n.3858G>C
n.2459G>C
c.2970G>C (p.Arg990Ser)
n.460G>C
c.3018G>C (p.Arg1006Ser)
c.3078G>C (p.Arg1026Ser)
c.2628G>C (p.Arg876Ser)
c.930G>C (p.Arg310Ser)
c.877-1684G>C (n.877-1684G>C)
c.2979G>C (p.Arg993Ser)
c.3061-1684G>C (n.3061-1684G>C)
c.2700G>C (p.Arg900Ser)
c.2731-1684G>C (n.2731-1684G>C)
c.1782G>C (p.Arg594Ser)
n.3333G>C
13g.51944238C>TCA6988804ATP7Bc.*894-1684G>A (n.*894-1684G>A)
c.*1858G>A (n.*1858G>A)
c.2493G>A (p.Arg831=)
c.3114G>A (p.Arg1038=)
c.2781G>A (p.Arg927=)
c.2862G>A (p.Arg954=)
c.2880G>A (p.Arg960=)
n.3253G>A
n.3477G>A
c.2049G>A (p.Arg683=)
c.1824G>A (p.Arg608=)
c.2919G>A (p.Arg973=)
n.334G>A
c.1022-1684G>A
c.*215G>A (n.*215G>A)
n.3858G>A
n.2459G>A
c.2970G>A (p.Arg990=)
n.460G>A
c.3018G>A (p.Arg1006=)
c.3078G>A (p.Arg1026=)
c.2628G>A (p.Arg876=)
c.930G>A (p.Arg310=)
c.877-1684G>A (n.877-1684G>A)
c.2979G>A (p.Arg993=)
c.3061-1684G>A (n.3061-1684G>A)
c.2700G>A (p.Arg900=)
c.2731-1684G>A (n.2731-1684G>A)
c.1782G>A (p.Arg594=)
n.3333G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944239C>ACA388030373ATP7Bc.*894-1685G>T (n.*894-1685G>T)
c.*1857G>T (n.*1857G>T)
c.2492G>T (p.Arg831Met)
c.3113G>T (p.Arg1038Met)
c.2780G>T (p.Arg927Met)
c.2861G>T (p.Arg954Met)
c.2879G>T (p.Arg960Met)
n.3252G>T
n.3476G>T
c.2048G>T (p.Arg683Met)
c.1823G>T (p.Arg608Met)
c.2918G>T (p.Arg973Met)
n.333G>T
c.1022-1685G>T
c.*214G>T (n.*214G>T)
n.3857G>T
n.2458G>T
c.2969G>T (p.Arg990Met)
n.459G>T
c.3017G>T (p.Arg1006Met)
c.3077G>T (p.Arg1026Met)
c.2627G>T (p.Arg876Met)
c.929G>T (p.Arg310Met)
c.877-1685G>T (n.877-1685G>T)
c.2978G>T (p.Arg993Met)
c.3061-1685G>T (n.3061-1685G>T)
c.2699G>T (p.Arg900Met)
c.2731-1685G>T (n.2731-1685G>T)
c.1781G>T (p.Arg594Met)
n.3332G>T
13g.51944239C=CA2091564075ATP7Bc.*894-1685G= (n.*894-1685G=)
c.*1857G= (n.*1857G=)
c.2492G= (p.Arg831=)
c.3113G= (p.Arg1038=)
c.2780G= (p.Arg927=)
c.2861G= (p.Arg954=)
c.2879G= (p.Arg960=)
n.3252G=
n.3476G=
c.2048G= (p.Arg683=)
c.1823G= (p.Arg608=)
c.2918G= (p.Arg973=)
n.333G=
c.1022-1685G=
c.*214G= (n.*214G=)
n.3857G=
n.2458G=
c.2969G= (p.Arg990=)
n.459G=
c.3017G= (p.Arg1006=)
c.3077G= (p.Arg1026=)
c.2627G= (p.Arg876=)
c.929G= (p.Arg310=)
c.877-1685G= (n.877-1685G=)
c.2978G= (p.Arg993=)
c.3061-1685G= (n.3061-1685G=)
c.2699G= (p.Arg900=)
c.2731-1685G= (n.2731-1685G=)
c.1781G= (p.Arg594=)
n.3332G=
13g.51944239C>GCA250080239ATP7Bc.*894-1685G>C (n.*894-1685G>C)
c.*1857G>C (n.*1857G>C)
c.2492G>C (p.Arg831Thr)
c.3113G>C (p.Arg1038Thr)
c.2780G>C (p.Arg927Thr)
c.2861G>C (p.Arg954Thr)
c.2879G>C (p.Arg960Thr)
n.3252G>C
n.3476G>C
c.2048G>C (p.Arg683Thr)
c.1823G>C (p.Arg608Thr)
c.2918G>C (p.Arg973Thr)
n.333G>C
c.1022-1685G>C
c.*214G>C (n.*214G>C)
n.3857G>C
n.2458G>C
c.2969G>C (p.Arg990Thr)
n.459G>C
c.3017G>C (p.Arg1006Thr)
c.3077G>C (p.Arg1026Thr)
c.2627G>C (p.Arg876Thr)
c.929G>C (p.Arg310Thr)
c.877-1685G>C (n.877-1685G>C)
c.2978G>C (p.Arg993Thr)
c.3061-1685G>C (n.3061-1685G>C)
c.2699G>C (p.Arg900Thr)
c.2731-1685G>C (n.2731-1685G>C)
c.1781G>C (p.Arg594Thr)
n.3332G>C
 dbSNP gnomAD v4
13g.51944239C>TCA6988805ATP7Bc.*894-1685G>A (n.*894-1685G>A)
c.*1857G>A (n.*1857G>A)
c.2492G>A (p.Arg831Lys)
c.3113G>A (p.Arg1038Lys)
c.2780G>A (p.Arg927Lys)
c.2861G>A (p.Arg954Lys)
c.2879G>A (p.Arg960Lys)
n.3252G>A
n.3476G>A
c.2048G>A (p.Arg683Lys)
c.1823G>A (p.Arg608Lys)
c.2918G>A (p.Arg973Lys)
n.333G>A
c.1022-1685G>A
c.*214G>A (n.*214G>A)
n.3857G>A
n.2458G>A
c.2969G>A (p.Arg990Lys)
n.459G>A
c.3017G>A (p.Arg1006Lys)
c.3077G>A (p.Arg1026Lys)
c.2627G>A (p.Arg876Lys)
c.929G>A (p.Arg310Lys)
c.877-1685G>A (n.877-1685G>A)
c.2978G>A (p.Arg993Lys)
c.3061-1685G>A (n.3061-1685G>A)
c.2699G>A (p.Arg900Lys)
c.2731-1685G>A (n.2731-1685G>A)
c.1781G>A (p.Arg594Lys)
n.3332G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944240T>ACA388030378ATP7Bc.*894-1686A>T (n.*894-1686A>T)
c.*1856A>T (n.*1856A>T)
c.2491A>T (p.Arg831Trp)
c.3112A>T (p.Arg1038Trp)
c.2779A>T (p.Arg927Trp)
c.2860A>T (p.Arg954Trp)
c.2878A>T (p.Arg960Trp)
n.3251A>T
n.3475A>T
c.2047A>T (p.Arg683Trp)
c.1822A>T (p.Arg608Trp)
c.2917A>T (p.Arg973Trp)
n.332A>T
c.1022-1686A>T
c.*213A>T (n.*213A>T)
n.3856A>T
n.2457A>T
c.2968A>T (p.Arg990Trp)
n.458A>T
c.3016A>T (p.Arg1006Trp)
c.3076A>T (p.Arg1026Trp)
c.2626A>T (p.Arg876Trp)
c.928A>T (p.Arg310Trp)
c.877-1686A>T (n.877-1686A>T)
c.2977A>T (p.Arg993Trp)
c.3061-1686A>T (n.3061-1686A>T)
c.2698A>T (p.Arg900Trp)
c.2731-1686A>T (n.2731-1686A>T)
c.1780A>T (p.Arg594Trp)
n.3331A>T
13g.51944240T>CCA388030387ATP7Bc.*894-1686A>G (n.*894-1686A>G)
c.*1856A>G (n.*1856A>G)
c.2491A>G (p.Arg831Gly)
c.3112A>G (p.Arg1038Gly)
c.2779A>G (p.Arg927Gly)
c.2860A>G (p.Arg954Gly)
c.2878A>G (p.Arg960Gly)
n.3251A>G
n.3475A>G
c.2047A>G (p.Arg683Gly)
c.1822A>G (p.Arg608Gly)
c.2917A>G (p.Arg973Gly)
n.332A>G
c.1022-1686A>G
c.*213A>G (n.*213A>G)
n.3856A>G
n.2457A>G
c.2968A>G (p.Arg990Gly)
n.458A>G
c.3016A>G (p.Arg1006Gly)
c.3076A>G (p.Arg1026Gly)
c.2626A>G (p.Arg876Gly)
c.928A>G (p.Arg310Gly)
c.877-1686A>G (n.877-1686A>G)
c.2977A>G (p.Arg993Gly)
c.3061-1686A>G (n.3061-1686A>G)
c.2698A>G (p.Arg900Gly)
c.2731-1686A>G (n.2731-1686A>G)
c.1780A>G (p.Arg594Gly)
n.3331A>G
13g.51944240T>GCA483894740ATP7Bc.*894-1686A>C (n.*894-1686A>C)
c.*1856A>C (n.*1856A>C)
c.2491A>C (p.Arg831=)
c.3112A>C (p.Arg1038=)
c.2779A>C (p.Arg927=)
c.2860A>C (p.Arg954=)
c.2878A>C (p.Arg960=)
n.3251A>C
n.3475A>C
c.2047A>C (p.Arg683=)
c.1822A>C (p.Arg608=)
c.2917A>C (p.Arg973=)
n.332A>C
c.1022-1686A>C
c.*213A>C (n.*213A>C)
n.3856A>C
n.2457A>C
c.2968A>C (p.Arg990=)
n.458A>C
c.3016A>C (p.Arg1006=)
c.3076A>C (p.Arg1026=)
c.2626A>C (p.Arg876=)
c.928A>C (p.Arg310=)
c.877-1686A>C (n.877-1686A>C)
c.2977A>C (p.Arg993=)
c.3061-1686A>C (n.3061-1686A>C)
c.2698A>C (p.Arg900=)
c.2731-1686A>C (n.2731-1686A>C)
c.1780A>C (p.Arg594=)
n.3331A>C
 ClinVar dbSNP
13g.51944240T=CA2091564080ATP7Bc.*894-1686A= (n.*894-1686A=)
c.*1856A= (n.*1856A=)
c.2491A= (p.Arg831=)
c.3112A= (p.Arg1038=)
c.2779A= (p.Arg927=)
c.2860A= (p.Arg954=)
c.2878A= (p.Arg960=)
n.3251A=
n.3475A=
c.2047A= (p.Arg683=)
c.1822A= (p.Arg608=)
c.2917A= (p.Arg973=)
n.332A=
c.1022-1686A=
c.*213A= (n.*213A=)
n.3856A=
n.2457A=
c.2968A= (p.Arg990=)
n.458A=
c.3016A= (p.Arg1006=)
c.3076A= (p.Arg1026=)
c.2626A= (p.Arg876=)
c.928A= (p.Arg310=)
c.877-1686A= (n.877-1686A=)
c.2977A= (p.Arg993=)
c.3061-1686A= (n.3061-1686A=)
c.2698A= (p.Arg900=)
c.2731-1686A= (n.2731-1686A=)
c.1780A= (p.Arg594=)
n.3331A=
13g.51944241G>ACA483894741ATP7Bc.*894-1687C>T (n.*894-1687C>T)
c.*1855C>T (n.*1855C>T)
c.2490C>T (p.Pro830=)
c.3111C>T (p.Pro1037=)
c.2778C>T (p.Pro926=)
c.2859C>T (p.Pro953=)
c.2877C>T (p.Pro959=)
n.3250C>T
n.3474C>T
c.2046C>T (p.Pro682=)
c.1821C>T (p.Pro607=)
c.2916C>T (p.Pro972=)
n.331C>T
c.1022-1687C>T
c.*212C>T (n.*212C>T)
n.3855C>T
n.2456C>T
c.2967C>T (p.Pro989=)
n.457C>T
c.3015C>T (p.Pro1005=)
c.3075C>T (p.Pro1025=)
c.2625C>T (p.Pro875=)
c.927C>T (p.Pro309=)
c.877-1687C>T (n.877-1687C>T)
c.2976C>T (p.Pro992=)
c.3061-1687C>T (n.3061-1687C>T)
c.2697C>T (p.Pro899=)
c.2731-1687C>T (n.2731-1687C>T)
c.1779C>T (p.Pro593=)
n.3330C>T
13g.51944241G>CCA483894742ATP7Bc.*894-1687C>G (n.*894-1687C>G)
c.*1855C>G (n.*1855C>G)
c.2490C>G (p.Pro830=)
c.3111C>G (p.Pro1037=)
c.2778C>G (p.Pro926=)
c.2859C>G (p.Pro953=)
c.2877C>G (p.Pro959=)
n.3250C>G
n.3474C>G
c.2046C>G (p.Pro682=)
c.1821C>G (p.Pro607=)
c.2916C>G (p.Pro972=)
n.331C>G
c.1022-1687C>G
c.*212C>G (n.*212C>G)
n.3855C>G
n.2456C>G
c.2967C>G (p.Pro989=)
n.457C>G
c.3015C>G (p.Pro1005=)
c.3075C>G (p.Pro1025=)
c.2625C>G (p.Pro875=)
c.927C>G (p.Pro309=)
c.877-1687C>G (n.877-1687C>G)
c.2976C>G (p.Pro992=)
c.3061-1687C>G (n.3061-1687C>G)
c.2697C>G (p.Pro899=)
c.2731-1687C>G (n.2731-1687C>G)
c.1779C>G (p.Pro593=)
n.3330C>G
13g.51944241G>TCA483894743ATP7Bc.*894-1687C>A (n.*894-1687C>A)
c.*1855C>A (n.*1855C>A)
c.2490C>A (p.Pro830=)
c.3111C>A (p.Pro1037=)
c.2778C>A (p.Pro926=)
c.2859C>A (p.Pro953=)
c.2877C>A (p.Pro959=)
n.3250C>A
n.3474C>A
c.2046C>A (p.Pro682=)
c.1821C>A (p.Pro607=)
c.2916C>A (p.Pro972=)
n.331C>A
c.1022-1687C>A
c.*212C>A (n.*212C>A)
n.3855C>A
n.2456C>A
c.2967C>A (p.Pro989=)
n.457C>A
c.3015C>A (p.Pro1005=)
c.3075C>A (p.Pro1025=)
c.2625C>A (p.Pro875=)
c.927C>A (p.Pro309=)
c.877-1687C>A (n.877-1687C>A)
c.2976C>A (p.Pro992=)
c.3061-1687C>A (n.3061-1687C>A)
c.2697C>A (p.Pro899=)
c.2731-1687C>A (n.2731-1687C>A)
c.1779C>A (p.Pro593=)
n.3330C>A
13g.51944244delCA2580087657ATP7Bc.*894-1687del (n.*894-1687del)
c.*1855del (n.*1855del)
c.2490del (p.Arg831GlyfsTer?)
c.3111del (p.Arg1038GlyfsTer?)
c.2778del (p.Arg927GlyfsTer?)
c.2859del (p.Arg954GlyfsTer?)
c.2877del (p.Arg960GlyfsTer?)
n.3250del
n.3474del
c.2046del (p.Arg683GlyfsTer?)
c.1821del (p.Arg608GlyfsTer?)
c.2916del (p.Arg973GlyfsTer?)
n.331del
c.1022-1687del
c.*212del (n.*212del)
n.3855del
n.2456del
c.2967del (p.Arg990GlyfsTer?)
n.457del
c.3015del (p.Arg1006GlyfsTer?)
c.3075del (p.Arg1026GlyfsTer?)
c.2625del (p.Arg876GlyfsTer?)
c.927del (p.Arg310GlyfsTer?)
c.877-1687del (n.877-1687del)
c.2976del (p.Arg993GlyfsTer?)
c.3061-1687del (n.3061-1687del)
c.2697del (p.Arg900GlyfsTer?)
c.2731-1687del (n.2731-1687del)
c.1779del (p.Arg594GlyfsTer?)
n.3330del
 ClinVar
13g.51944242G>ACA388030388ATP7Bc.*894-1688C>T (n.*894-1688C>T)
c.*1854C>T (n.*1854C>T)
c.2489C>T (p.Pro830Leu)
c.3110C>T (p.Pro1037Leu)
c.2777C>T (p.Pro926Leu)
c.2858C>T (p.Pro953Leu)
c.2876C>T (p.Pro959Leu)
n.3249C>T
n.3473C>T
c.2045C>T (p.Pro682Leu)
c.1820C>T (p.Pro607Leu)
c.2915C>T (p.Pro972Leu)
n.330C>T
c.1022-1688C>T
c.*211C>T (n.*211C>T)
n.3854C>T
n.2455C>T
c.2966C>T (p.Pro989Leu)
n.456C>T
c.3014C>T (p.Pro1005Leu)
c.3074C>T (p.Pro1025Leu)
c.2624C>T (p.Pro875Leu)
c.926C>T (p.Pro309Leu)
c.877-1688C>T (n.877-1688C>T)
c.2975C>T (p.Pro992Leu)
c.3061-1688C>T (n.3061-1688C>T)
c.2696C>T (p.Pro899Leu)
c.2731-1688C>T (n.2731-1688C>T)
c.1778C>T (p.Pro593Leu)
n.3329C>T
 ClinVar
13g.51944242G>CCA388030389ATP7Bc.*894-1688C>G (n.*894-1688C>G)
c.*1854C>G (n.*1854C>G)
c.2489C>G (p.Pro830Arg)
c.3110C>G (p.Pro1037Arg)
c.2777C>G (p.Pro926Arg)
c.2858C>G (p.Pro953Arg)
c.2876C>G (p.Pro959Arg)
n.3249C>G
n.3473C>G
c.2045C>G (p.Pro682Arg)
c.1820C>G (p.Pro607Arg)
c.2915C>G (p.Pro972Arg)
n.330C>G
c.1022-1688C>G
c.*211C>G (n.*211C>G)
n.3854C>G
n.2455C>G
c.2966C>G (p.Pro989Arg)
n.456C>G
c.3014C>G (p.Pro1005Arg)
c.3074C>G (p.Pro1025Arg)
c.2624C>G (p.Pro875Arg)
c.926C>G (p.Pro309Arg)
c.877-1688C>G (n.877-1688C>G)
c.2975C>G (p.Pro992Arg)
c.3061-1688C>G (n.3061-1688C>G)
c.2696C>G (p.Pro899Arg)
c.2731-1688C>G (n.2731-1688C>G)
c.1778C>G (p.Pro593Arg)
n.3329C>G
 dbSNP gnomAD v2 gnomAD v4
13g.51944242G=CA2091564084ATP7Bc.*894-1688C= (n.*894-1688C=)
c.*1854C= (n.*1854C=)
c.2489C= (p.Pro830=)
c.3110C= (p.Pro1037=)
c.2777C= (p.Pro926=)
c.2858C= (p.Pro953=)
c.2876C= (p.Pro959=)
n.3249C=
n.3473C=
c.2045C= (p.Pro682=)
c.1820C= (p.Pro607=)
c.2915C= (p.Pro972=)
n.330C=
c.1022-1688C=
c.*211C= (n.*211C=)
n.3854C=
n.2455C=
c.2966C= (p.Pro989=)
n.456C=
c.3014C= (p.Pro1005=)
c.3074C= (p.Pro1025=)
c.2624C= (p.Pro875=)
c.926C= (p.Pro309=)
c.877-1688C= (n.877-1688C=)
c.2975C= (p.Pro992=)
c.3061-1688C= (n.3061-1688C=)
c.2696C= (p.Pro899=)
c.2731-1688C= (n.2731-1688C=)
c.1778C= (p.Pro593=)
n.3329C=
13g.51944242G>TCA388030390ATP7Bc.*894-1688C>A (n.*894-1688C>A)
c.*1854C>A (n.*1854C>A)
c.2489C>A (p.Pro830His)
c.3110C>A (p.Pro1037His)
c.2777C>A (p.Pro926His)
c.2858C>A (p.Pro953His)
c.2876C>A (p.Pro959His)
n.3249C>A
n.3473C>A
c.2045C>A (p.Pro682His)
c.1820C>A (p.Pro607His)
c.2915C>A (p.Pro972His)
n.330C>A
c.1022-1688C>A
c.*211C>A (n.*211C>A)
n.3854C>A
n.2455C>A
c.2966C>A (p.Pro989His)
n.456C>A
c.3014C>A (p.Pro1005His)
c.3074C>A (p.Pro1025His)
c.2624C>A (p.Pro875His)
c.926C>A (p.Pro309His)
c.877-1688C>A (n.877-1688C>A)
c.2975C>A (p.Pro992His)
c.3061-1688C>A (n.3061-1688C>A)
c.2696C>A (p.Pro899His)
c.2731-1688C>A (n.2731-1688C>A)
c.1778C>A (p.Pro593His)
n.3329C>A
13g.51944243G>ACA6988806ATP7Bc.*894-1689C>T (n.*894-1689C>T)
c.*1853C>T (n.*1853C>T)
c.2488C>T (p.Pro830Ser)
c.3109C>T (p.Pro1037Ser)
c.2776C>T (p.Pro926Ser)
c.2857C>T (p.Pro953Ser)
c.2875C>T (p.Pro959Ser)
n.3248C>T
n.3472C>T
c.2044C>T (p.Pro682Ser)
c.1819C>T (p.Pro607Ser)
c.2914C>T (p.Pro972Ser)
n.329C>T
c.1022-1689C>T
c.*210C>T (n.*210C>T)
n.3853C>T
n.2454C>T
c.2965C>T (p.Pro989Ser)
n.455C>T
c.3013C>T (p.Pro1005Ser)
c.3073C>T (p.Pro1025Ser)
c.2623C>T (p.Pro875Ser)
c.925C>T (p.Pro309Ser)
c.877-1689C>T (n.877-1689C>T)
c.2974C>T (p.Pro992Ser)
c.3061-1689C>T (n.3061-1689C>T)
c.2695C>T (p.Pro899Ser)
c.2731-1689C>T (n.2731-1689C>T)
c.1777C>T (p.Pro593Ser)
n.3328C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944243G>CCA250080255ATP7Bc.*894-1689C>G (n.*894-1689C>G)
c.*1853C>G (n.*1853C>G)
c.2488C>G (p.Pro830Ala)
c.3109C>G (p.Pro1037Ala)
c.2776C>G (p.Pro926Ala)
c.2857C>G (p.Pro953Ala)
c.2875C>G (p.Pro959Ala)
n.3248C>G
n.3472C>G
c.2044C>G (p.Pro682Ala)
c.1819C>G (p.Pro607Ala)
c.2914C>G (p.Pro972Ala)
n.329C>G
c.1022-1689C>G
c.*210C>G (n.*210C>G)
n.3853C>G
n.2454C>G
c.2965C>G (p.Pro989Ala)
n.455C>G
c.3013C>G (p.Pro1005Ala)
c.3073C>G (p.Pro1025Ala)
c.2623C>G (p.Pro875Ala)
c.925C>G (p.Pro309Ala)
c.877-1689C>G (n.877-1689C>G)
c.2974C>G (p.Pro992Ala)
c.3061-1689C>G (n.3061-1689C>G)
c.2695C>G (p.Pro899Ala)
c.2731-1689C>G (n.2731-1689C>G)
c.1777C>G (p.Pro593Ala)
n.3328C>G
 dbSNP
13g.51944243G=CA2091564088ATP7Bc.*894-1689C= (n.*894-1689C=)
c.*1853C= (n.*1853C=)
c.2488C= (p.Pro830=)
c.3109C= (p.Pro1037=)
c.2776C= (p.Pro926=)
c.2857C= (p.Pro953=)
c.2875C= (p.Pro959=)
n.3248C=
n.3472C=
c.2044C= (p.Pro682=)
c.1819C= (p.Pro607=)
c.2914C= (p.Pro972=)
n.329C=
c.1022-1689C=
c.*210C= (n.*210C=)
n.3853C=
n.2454C=
c.2965C= (p.Pro989=)
n.455C=
c.3013C= (p.Pro1005=)
c.3073C= (p.Pro1025=)
c.2623C= (p.Pro875=)
c.925C= (p.Pro309=)
c.877-1689C= (n.877-1689C=)
c.2974C= (p.Pro992=)
c.3061-1689C= (n.3061-1689C=)
c.2695C= (p.Pro899=)
c.2731-1689C= (n.2731-1689C=)
c.1777C= (p.Pro593=)
n.3328C=
13g.51944243G>TCA388030393ATP7Bc.*894-1689C>A (n.*894-1689C>A)
c.*1853C>A (n.*1853C>A)
c.2488C>A (p.Pro830Thr)
c.3109C>A (p.Pro1037Thr)
c.2776C>A (p.Pro926Thr)
c.2857C>A (p.Pro953Thr)
c.2875C>A (p.Pro959Thr)
n.3248C>A
n.3472C>A
c.2044C>A (p.Pro682Thr)
c.1819C>A (p.Pro607Thr)
c.2914C>A (p.Pro972Thr)
n.329C>A
c.1022-1689C>A
c.*210C>A (n.*210C>A)
n.3853C>A
n.2454C>A
c.2965C>A (p.Pro989Thr)
n.455C>A
c.3013C>A (p.Pro1005Thr)
c.3073C>A (p.Pro1025Thr)
c.2623C>A (p.Pro875Thr)
c.925C>A (p.Pro309Thr)
c.877-1689C>A (n.877-1689C>A)
c.2974C>A (p.Pro992Thr)
c.3061-1689C>A (n.3061-1689C>A)
c.2695C>A (p.Pro899Thr)
c.2731-1689C>A (n.2731-1689C>A)
c.1777C>A (p.Pro593Thr)
n.3328C>A
13g.51944244G>ACA483894744ATP7Bc.*894-1690C>T (n.*894-1690C>T)
c.*1852C>T (n.*1852C>T)
c.2487C>T (p.Val829=)
c.3108C>T (p.Val1036=)
c.2775C>T (p.Val925=)
c.2856C>T (p.Val952=)
c.2874C>T (p.Val958=)
n.3247C>T
n.3471C>T
c.2043C>T (p.Val681=)
c.1818C>T (p.Val606=)
c.2913C>T (p.Val971=)
n.328C>T
c.1022-1690C>T
c.*209C>T (n.*209C>T)
n.3852C>T
n.2453C>T
c.2964C>T (p.Val988=)
n.454C>T
c.3012C>T (p.Val1004=)
c.3072C>T (p.Val1024=)
c.2622C>T (p.Val874=)
c.924C>T (p.Val308=)
c.877-1690C>T (n.877-1690C>T)
c.2973C>T (p.Val991=)
c.3061-1690C>T (n.3061-1690C>T)
c.2694C>T (p.Val898=)
c.2731-1690C>T (n.2731-1690C>T)
c.1776C>T (p.Val592=)
n.3327C>T
13g.51944244G>CCA483894745ATP7Bc.*894-1690C>G (n.*894-1690C>G)
c.*1852C>G (n.*1852C>G)
c.2487C>G (p.Val829=)
c.3108C>G (p.Val1036=)
c.2775C>G (p.Val925=)
c.2856C>G (p.Val952=)
c.2874C>G (p.Val958=)
n.3247C>G
n.3471C>G
c.2043C>G (p.Val681=)
c.1818C>G (p.Val606=)
c.2913C>G (p.Val971=)
n.328C>G
c.1022-1690C>G
c.*209C>G (n.*209C>G)
n.3852C>G
n.2453C>G
c.2964C>G (p.Val988=)
n.454C>G
c.3012C>G (p.Val1004=)
c.3072C>G (p.Val1024=)
c.2622C>G (p.Val874=)
c.924C>G (p.Val308=)
c.877-1690C>G (n.877-1690C>G)
c.2973C>G (p.Val991=)
c.3061-1690C>G (n.3061-1690C>G)
c.2694C>G (p.Val898=)
c.2731-1690C>G (n.2731-1690C>G)
c.1776C>G (p.Val592=)
n.3327C>G
13g.51944244G=CA2091564094ATP7Bc.*894-1690C= (n.*894-1690C=)
c.*1852C= (n.*1852C=)
c.2487C= (p.Val829=)
c.3108C= (p.Val1036=)
c.2775C= (p.Val925=)
c.2856C= (p.Val952=)
c.2874C= (p.Val958=)
n.3247C=
n.3471C=
c.2043C= (p.Val681=)
c.1818C= (p.Val606=)
c.2913C= (p.Val971=)
n.328C=
c.1022-1690C=
c.*209C= (n.*209C=)
n.3852C=
n.2453C=
c.2964C= (p.Val988=)
n.454C=
c.3012C= (p.Val1004=)
c.3072C= (p.Val1024=)
c.2622C= (p.Val874=)
c.924C= (p.Val308=)
c.877-1690C= (n.877-1690C=)
c.2973C= (p.Val991=)
c.3061-1690C= (n.3061-1690C=)
c.2694C= (p.Val898=)
c.2731-1690C= (n.2731-1690C=)
c.1776C= (p.Val592=)
n.3327C=
13g.51944244G>TCA483894746ATP7Bc.*894-1690C>A (n.*894-1690C>A)
c.*1852C>A (n.*1852C>A)
c.2487C>A (p.Val829=)
c.3108C>A (p.Val1036=)
c.2775C>A (p.Val925=)
c.2856C>A (p.Val952=)
c.2874C>A (p.Val958=)
n.3247C>A
n.3471C>A
c.2043C>A (p.Val681=)
c.1818C>A (p.Val606=)
c.2913C>A (p.Val971=)
n.328C>A
c.1022-1690C>A
c.*209C>A (n.*209C>A)
n.3852C>A
n.2453C>A
c.2964C>A (p.Val988=)
n.454C>A
c.3012C>A (p.Val1004=)
c.3072C>A (p.Val1024=)
c.2622C>A (p.Val874=)
c.924C>A (p.Val308=)
c.877-1690C>A (n.877-1690C>A)
c.2973C>A (p.Val991=)
c.3061-1690C>A (n.3061-1690C>A)
c.2694C>A (p.Val898=)
c.2731-1690C>A (n.2731-1690C>A)
c.1776C>A (p.Val592=)
n.3327C>A
 ClinVar dbSNP gnomAD v4
13g.51944245A=CA2091564102ATP7Bc.*894-1691T= (n.*894-1691T=)
c.*1851T= (n.*1851T=)
c.2486T= (p.Val829=)
c.3107T= (p.Val1036=)
c.2774T= (p.Val925=)
c.2855T= (p.Val952=)
c.2873T= (p.Val958=)
n.3246T=
n.3470T=
c.2042T= (p.Val681=)
c.1817T= (p.Val606=)
c.2912T= (p.Val971=)
n.327T=
c.1022-1691T=
c.*208T= (n.*208T=)
n.3851T=
n.2452T=
c.2963T= (p.Val988=)
n.453T=
c.3011T= (p.Val1004=)
c.3071T= (p.Val1024=)
c.2621T= (p.Val874=)
c.923T= (p.Val308=)
c.877-1691T= (n.877-1691T=)
c.2972T= (p.Val991=)
c.3061-1691T= (n.3061-1691T=)
c.2693T= (p.Val898=)
c.2731-1691T= (n.2731-1691T=)
c.1775T= (p.Val592=)
n.3326T=
13g.51944245A>CCA388030404ATP7Bc.*894-1691T>G (n.*894-1691T>G)
c.*1851T>G (n.*1851T>G)
c.2486T>G (p.Val829Gly)
c.3107T>G (p.Val1036Gly)
c.2774T>G (p.Val925Gly)
c.2855T>G (p.Val952Gly)
c.2873T>G (p.Val958Gly)
n.3246T>G
n.3470T>G
c.2042T>G (p.Val681Gly)
c.1817T>G (p.Val606Gly)
c.2912T>G (p.Val971Gly)
n.327T>G
c.1022-1691T>G
c.*208T>G (n.*208T>G)
n.3851T>G
n.2452T>G
c.2963T>G (p.Val988Gly)
n.453T>G
c.3011T>G (p.Val1004Gly)
c.3071T>G (p.Val1024Gly)
c.2621T>G (p.Val874Gly)
c.923T>G (p.Val308Gly)
c.877-1691T>G (n.877-1691T>G)
c.2972T>G (p.Val991Gly)
c.3061-1691T>G (n.3061-1691T>G)
c.2693T>G (p.Val898Gly)
c.2731-1691T>G (n.2731-1691T>G)
c.1775T>G (p.Val592Gly)
n.3326T>G
13g.51944245A>GCA388030406ATP7Bc.*894-1691T>C (n.*894-1691T>C)
c.*1851T>C (n.*1851T>C)
c.2486T>C (p.Val829Ala)
c.3107T>C (p.Val1036Ala)
c.2774T>C (p.Val925Ala)
c.2855T>C (p.Val952Ala)
c.2873T>C (p.Val958Ala)
n.3246T>C
n.3470T>C
c.2042T>C (p.Val681Ala)
c.1817T>C (p.Val606Ala)
c.2912T>C (p.Val971Ala)
n.327T>C
c.1022-1691T>C
c.*208T>C (n.*208T>C)
n.3851T>C
n.2452T>C
c.2963T>C (p.Val988Ala)
n.453T>C
c.3011T>C (p.Val1004Ala)
c.3071T>C (p.Val1024Ala)
c.2621T>C (p.Val874Ala)
c.923T>C (p.Val308Ala)
c.877-1691T>C (n.877-1691T>C)
c.2972T>C (p.Val991Ala)
c.3061-1691T>C (n.3061-1691T>C)
c.2693T>C (p.Val898Ala)
c.2731-1691T>C (n.2731-1691T>C)
c.1775T>C (p.Val592Ala)
n.3326T>C
13g.51944245A>TCA388030408ATP7Bc.*894-1691T>A (n.*894-1691T>A)
c.*1851T>A (n.*1851T>A)
c.2486T>A (p.Val829Asp)
c.3107T>A (p.Val1036Asp)
c.2774T>A (p.Val925Asp)
c.2855T>A (p.Val952Asp)
c.2873T>A (p.Val958Asp)
n.3246T>A
n.3470T>A
c.2042T>A (p.Val681Asp)
c.1817T>A (p.Val606Asp)
c.2912T>A (p.Val971Asp)
n.327T>A
c.1022-1691T>A
c.*208T>A (n.*208T>A)
n.3851T>A
n.2452T>A
c.2963T>A (p.Val988Asp)
n.453T>A
c.3011T>A (p.Val1004Asp)
c.3071T>A (p.Val1024Asp)
c.2621T>A (p.Val874Asp)
c.923T>A (p.Val308Asp)
c.877-1691T>A (n.877-1691T>A)
c.2972T>A (p.Val991Asp)
c.3061-1691T>A (n.3061-1691T>A)
c.2693T>A (p.Val898Asp)
c.2731-1691T>A (n.2731-1691T>A)
c.1775T>A (p.Val592Asp)
n.3326T>A
 dbSNP gnomAD v2 gnomAD v4
13g.51944245dupCA10605504ATP7Bc.*894-1691dup (n.*894-1691dup)
c.*1851dup (n.*1851dup)
c.2486dup (p.Arg831GlnfsTer?)
c.3107dup (p.Arg1038GlnfsTer?)
c.2774dup (p.Arg927GlnfsTer?)
c.2855dup (p.Arg954GlnfsTer?)
c.2873dup (p.Arg960GlnfsTer?)
n.3246dup
n.3470dup
c.2042dup (p.Arg683GlnfsTer?)
c.1817dup (p.Arg608GlnfsTer?)
c.2912dup (p.Arg973GlnfsTer?)
n.327dup
c.1022-1691dup
c.*208dup (n.*208dup)
n.3851dup
n.2452dup
c.2963dup (p.Arg990GlnfsTer?)
n.453dup
c.3011dup (p.Arg1006GlnfsTer?)
c.3071dup (p.Arg1026GlnfsTer?)
c.2621dup (p.Arg876GlnfsTer?)
c.923dup (p.Arg310GlnfsTer?)
c.877-1691dup (n.877-1691dup)
c.2972dup (p.Arg993GlnfsTer?)
c.3061-1691dup (n.3061-1691dup)
c.2693dup (p.Arg900GlnfsTer?)
c.2731-1691dup (n.2731-1691dup)
c.1775dup (p.Arg594GlnfsTer?)
n.3326dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51944246C>ACA388030411ATP7Bc.*894-1692G>T (n.*894-1692G>T)
c.*1850G>T (n.*1850G>T)
c.2485G>T (p.Val829Phe)
c.3106G>T (p.Val1036Phe)
c.2773G>T (p.Val925Phe)
c.2854G>T (p.Val952Phe)
c.2872G>T (p.Val958Phe)
n.3245G>T
n.3469G>T
c.2041G>T (p.Val681Phe)
c.1816G>T (p.Val606Phe)
c.2911G>T (p.Val971Phe)
n.326G>T
c.1022-1692G>T
c.*207G>T (n.*207G>T)
n.3850G>T
n.2451G>T
c.2962G>T (p.Val988Phe)
n.452G>T
c.3010G>T (p.Val1004Phe)
c.3070G>T (p.Val1024Phe)
c.2620G>T (p.Val874Phe)
c.922G>T (p.Val308Phe)
c.877-1692G>T (n.877-1692G>T)
c.2971G>T (p.Val991Phe)
c.3061-1692G>T (n.3061-1692G>T)
c.2692G>T (p.Val898Phe)
c.2731-1692G>T (n.2731-1692G>T)
c.1774G>T (p.Val592Phe)
n.3325G>T
 ClinVar dbSNP gnomAD v4
13g.51944246C=CA2091564110ATP7Bc.*894-1692G= (n.*894-1692G=)
c.*1850G= (n.*1850G=)
c.2485G= (p.Val829=)
c.3106G= (p.Val1036=)
c.2773G= (p.Val925=)
c.2854G= (p.Val952=)
c.2872G= (p.Val958=)
n.3245G=
n.3469G=
c.2041G= (p.Val681=)
c.1816G= (p.Val606=)
c.2911G= (p.Val971=)
n.326G=
c.1022-1692G=
c.*207G= (n.*207G=)
n.3850G=
n.2451G=
c.2962G= (p.Val988=)
n.452G=
c.3010G= (p.Val1004=)
c.3070G= (p.Val1024=)
c.2620G= (p.Val874=)
c.922G= (p.Val308=)
c.877-1692G= (n.877-1692G=)
c.2971G= (p.Val991=)
c.3061-1692G= (n.3061-1692G=)
c.2692G= (p.Val898=)
c.2731-1692G= (n.2731-1692G=)
c.1774G= (p.Val592=)
n.3325G=
13g.51944246C>GCA388030424ATP7Bc.*894-1692G>C (n.*894-1692G>C)
c.*1850G>C (n.*1850G>C)
c.2485G>C (p.Val829Leu)
c.3106G>C (p.Val1036Leu)
c.2773G>C (p.Val925Leu)
c.2854G>C (p.Val952Leu)
c.2872G>C (p.Val958Leu)
n.3245G>C
n.3469G>C
c.2041G>C (p.Val681Leu)
c.1816G>C (p.Val606Leu)
c.2911G>C (p.Val971Leu)
n.326G>C
c.1022-1692G>C
c.*207G>C (n.*207G>C)
n.3850G>C
n.2451G>C
c.2962G>C (p.Val988Leu)
n.452G>C
c.3010G>C (p.Val1004Leu)
c.3070G>C (p.Val1024Leu)
c.2620G>C (p.Val874Leu)
c.922G>C (p.Val308Leu)
c.877-1692G>C (n.877-1692G>C)
c.2971G>C (p.Val991Leu)
c.3061-1692G>C (n.3061-1692G>C)
c.2692G>C (p.Val898Leu)
c.2731-1692G>C (n.2731-1692G>C)
c.1774G>C (p.Val592Leu)
n.3325G>C
13g.51944246C>TCA6988807ATP7Bc.*894-1692G>A (n.*894-1692G>A)
c.*1850G>A (n.*1850G>A)
c.2485G>A (p.Val829Ile)
c.3106G>A (p.Val1036Ile)
c.2773G>A (p.Val925Ile)
c.2854G>A (p.Val952Ile)
c.2872G>A (p.Val958Ile)
n.3245G>A
n.3469G>A
c.2041G>A (p.Val681Ile)
c.1816G>A (p.Val606Ile)
c.2911G>A (p.Val971Ile)
n.326G>A
c.1022-1692G>A
c.*207G>A (n.*207G>A)
n.3850G>A
n.2451G>A
c.2962G>A (p.Val988Ile)
n.452G>A
c.3010G>A (p.Val1004Ile)
c.3070G>A (p.Val1024Ile)
c.2620G>A (p.Val874Ile)
c.922G>A (p.Val308Ile)
c.877-1692G>A (n.877-1692G>A)
c.2971G>A (p.Val991Ile)
c.3061-1692G>A (n.3061-1692G>A)
c.2692G>A (p.Val898Ile)
c.2731-1692G>A (n.2731-1692G>A)
c.1774G>A (p.Val592Ile)
n.3325G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51944247G>ACA6988808ATP7Bc.*894-1693C>T (n.*894-1693C>T)
c.*1849C>T (n.*1849C>T)
c.2484C>T (p.Gly828=)
c.3105C>T (p.Gly1035=)
c.2772C>T (p.Gly924=)
c.2853C>T (p.Gly951=)
c.2871C>T (p.Gly957=)
n.3244C>T
n.3468C>T
c.2040C>T (p.Gly680=)
c.1815C>T (p.Gly605=)
c.2910C>T (p.Gly970=)
n.325C>T
c.1022-1693C>T
c.*206C>T (n.*206C>T)
n.3849C>T
n.2450C>T
c.2961C>T (p.Gly987=)
n.451C>T
c.3009C>T (p.Gly1003=)
c.3069C>T (p.Gly1023=)
c.2619C>T (p.Gly873=)
c.921C>T (p.Gly307=)
c.877-1693C>T (n.877-1693C>T)
c.2970C>T (p.Gly990=)
c.3061-1693C>T (n.3061-1693C>T)
c.2691C>T (p.Gly897=)
c.2731-1693C>T (n.2731-1693C>T)
c.1773C>T (p.Gly591=)
n.3324C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944247G>CCA483894747ATP7Bc.*894-1693C>G (n.*894-1693C>G)
c.*1849C>G (n.*1849C>G)
c.2484C>G (p.Gly828=)
c.3105C>G (p.Gly1035=)
c.2772C>G (p.Gly924=)
c.2853C>G (p.Gly951=)
c.2871C>G (p.Gly957=)
n.3244C>G
n.3468C>G
c.2040C>G (p.Gly680=)
c.1815C>G (p.Gly605=)
c.2910C>G (p.Gly970=)
n.325C>G
c.1022-1693C>G
c.*206C>G (n.*206C>G)
n.3849C>G
n.2450C>G
c.2961C>G (p.Gly987=)
n.451C>G
c.3009C>G (p.Gly1003=)
c.3069C>G (p.Gly1023=)
c.2619C>G (p.Gly873=)
c.921C>G (p.Gly307=)
c.877-1693C>G (n.877-1693C>G)
c.2970C>G (p.Gly990=)
c.3061-1693C>G (n.3061-1693C>G)
c.2691C>G (p.Gly897=)
c.2731-1693C>G (n.2731-1693C>G)
c.1773C>G (p.Gly591=)
n.3324C>G
13g.51944247G=CA2091564117ATP7Bc.*894-1693C= (n.*894-1693C=)
c.*1849C= (n.*1849C=)
c.2484C= (p.Gly828=)
c.3105C= (p.Gly1035=)
c.2772C= (p.Gly924=)
c.2853C= (p.Gly951=)
c.2871C= (p.Gly957=)
n.3244C=
n.3468C=
c.2040C= (p.Gly680=)
c.1815C= (p.Gly605=)
c.2910C= (p.Gly970=)
n.325C=
c.1022-1693C=
c.*206C= (n.*206C=)
n.3849C=
n.2450C=
c.2961C= (p.Gly987=)
n.451C=
c.3009C= (p.Gly1003=)
c.3069C= (p.Gly1023=)
c.2619C= (p.Gly873=)
c.921C= (p.Gly307=)
c.877-1693C= (n.877-1693C=)
c.2970C= (p.Gly990=)
c.3061-1693C= (n.3061-1693C=)
c.2691C= (p.Gly897=)
c.2731-1693C= (n.2731-1693C=)
c.1773C= (p.Gly591=)
n.3324C=
13g.51944247G>TCA483894748ATP7Bc.*894-1693C>A (n.*894-1693C>A)
c.*1849C>A (n.*1849C>A)
c.2484C>A (p.Gly828=)
c.3105C>A (p.Gly1035=)
c.2772C>A (p.Gly924=)
c.2853C>A (p.Gly951=)
c.2871C>A (p.Gly957=)
n.3244C>A
n.3468C>A
c.2040C>A (p.Gly680=)
c.1815C>A (p.Gly605=)
c.2910C>A (p.Gly970=)
n.325C>A
c.1022-1693C>A
c.*206C>A (n.*206C>A)
n.3849C>A
n.2450C>A
c.2961C>A (p.Gly987=)
n.451C>A
c.3009C>A (p.Gly1003=)
c.3069C>A (p.Gly1023=)
c.2619C>A (p.Gly873=)
c.921C>A (p.Gly307=)
c.877-1693C>A (n.877-1693C>A)
c.2970C>A (p.Gly990=)
c.3061-1693C>A (n.3061-1693C>A)
c.2691C>A (p.Gly897=)
c.2731-1693C>A (n.2731-1693C>A)
c.1773C>A (p.Gly591=)
n.3324C>A
 ClinVar dbSNP gnomAD v4
13g.51944247dupCA2695218749ATP7Bc.*894-1693dup (n.*894-1693dup)
c.*1849dup (n.*1849dup)
c.2484dup (p.Val829ArgfsTer?)
c.3105dup (p.Val1036ArgfsTer?)
c.2772dup (p.Val925ArgfsTer?)
c.2853dup (p.Val952ArgfsTer?)
c.2871dup (p.Val958ArgfsTer?)
n.3244dup
n.3468dup
c.2040dup (p.Val681ArgfsTer?)
c.1815dup (p.Val606ArgfsTer?)
c.2910dup (p.Val971ArgfsTer?)
n.325dup
c.1022-1693dup
c.*206dup (n.*206dup)
n.3849dup
n.2450dup
c.2961dup (p.Val988ArgfsTer?)
n.451dup
c.3009dup (p.Val1004ArgfsTer?)
c.3069dup (p.Val1024ArgfsTer?)
c.2619dup (p.Val874ArgfsTer?)
c.921dup (p.Val308ArgfsTer?)
c.877-1693dup (n.877-1693dup)
c.2970dup (p.Val991ArgfsTer?)
c.3061-1693dup (n.3061-1693dup)
c.2691dup (p.Val898ArgfsTer?)
c.2731-1693dup (n.2731-1693dup)
c.1773dup (p.Val592ArgfsTer?)
n.3324dup
13g.51944248C>ACA16041666ATP7Bc.*894-1694G>T (n.*894-1694G>T)
c.*1848G>T (n.*1848G>T)
c.2483G>T (p.Gly828Val)
c.3104G>T (p.Gly1035Val)
c.2771G>T (p.Gly924Val)
c.2852G>T (p.Gly951Val)
c.2870G>T (p.Gly957Val)
n.3243G>T
n.3467G>T
c.2039G>T (p.Gly680Val)
c.1814G>T (p.Gly605Val)
c.2909G>T (p.Gly970Val)
n.324G>T
c.1022-1694G>T
c.*205G>T (n.*205G>T)
n.3848G>T
n.2449G>T
c.2960G>T (p.Gly987Val)
n.450G>T
c.3008G>T (p.Gly1003Val)
c.3068G>T (p.Gly1023Val)
c.2618G>T (p.Gly873Val)
c.920G>T (p.Gly307Val)
c.877-1694G>T (n.877-1694G>T)
c.2969G>T (p.Gly990Val)
c.3061-1694G>T (n.3061-1694G>T)
c.2690G>T (p.Gly897Val)
c.2731-1694G>T (n.2731-1694G>T)
c.1772G>T (p.Gly591Val)
n.3323G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51944248C=CA2091564126ATP7Bc.*894-1694G= (n.*894-1694G=)
c.*1848G= (n.*1848G=)
c.2483G= (p.Gly828=)
c.3104G= (p.Gly1035=)
c.2771G= (p.Gly924=)
c.2852G= (p.Gly951=)
c.2870G= (p.Gly957=)
n.3243G=
n.3467G=
c.2039G= (p.Gly680=)
c.1814G= (p.Gly605=)
c.2909G= (p.Gly970=)
n.324G=
c.1022-1694G=
c.*205G= (n.*205G=)
n.3848G=
n.2449G=
c.2960G= (p.Gly987=)
n.450G=
c.3008G= (p.Gly1003=)
c.3068G= (p.Gly1023=)
c.2618G= (p.Gly873=)
c.920G= (p.Gly307=)
c.877-1694G= (n.877-1694G=)
c.2969G= (p.Gly990=)
c.3061-1694G= (n.3061-1694G=)
c.2690G= (p.Gly897=)
c.2731-1694G= (n.2731-1694G=)
c.1772G= (p.Gly591=)
n.3323G=
13g.51944248C>GCA388030434ATP7Bc.*894-1694G>C (n.*894-1694G>C)
c.*1848G>C (n.*1848G>C)
c.2483G>C (p.Gly828Ala)
c.3104G>C (p.Gly1035Ala)
c.2771G>C (p.Gly924Ala)
c.2852G>C (p.Gly951Ala)
c.2870G>C (p.Gly957Ala)
n.3243G>C
n.3467G>C
c.2039G>C (p.Gly680Ala)
c.1814G>C (p.Gly605Ala)
c.2909G>C (p.Gly970Ala)
n.324G>C
c.1022-1694G>C
c.*205G>C (n.*205G>C)
n.3848G>C
n.2449G>C
c.2960G>C (p.Gly987Ala)
n.450G>C
c.3008G>C (p.Gly1003Ala)
c.3068G>C (p.Gly1023Ala)
c.2618G>C (p.Gly873Ala)
c.920G>C (p.Gly307Ala)
c.877-1694G>C (n.877-1694G>C)
c.2969G>C (p.Gly990Ala)
c.3061-1694G>C (n.3061-1694G>C)
c.2690G>C (p.Gly897Ala)
c.2731-1694G>C (n.2731-1694G>C)
c.1772G>C (p.Gly591Ala)
n.3323G>C
13g.51944248C>TCA6988809ATP7Bc.*894-1694G>A (n.*894-1694G>A)
c.*1848G>A (n.*1848G>A)
c.2483G>A (p.Gly828Asp)
c.3104G>A (p.Gly1035Asp)
c.2771G>A (p.Gly924Asp)
c.2852G>A (p.Gly951Asp)
c.2870G>A (p.Gly957Asp)
n.3243G>A
n.3467G>A
c.2039G>A (p.Gly680Asp)
c.1814G>A (p.Gly605Asp)
c.2909G>A (p.Gly970Asp)
n.324G>A
c.1022-1694G>A
c.*205G>A (n.*205G>A)
n.3848G>A
n.2449G>A
c.2960G>A (p.Gly987Asp)
n.450G>A
c.3008G>A (p.Gly1003Asp)
c.3068G>A (p.Gly1023Asp)
c.2618G>A (p.Gly873Asp)
c.920G>A (p.Gly307Asp)
c.877-1694G>A (n.877-1694G>A)
c.2969G>A (p.Gly990Asp)
c.3061-1694G>A (n.3061-1694G>A)
c.2690G>A (p.Gly897Asp)
c.2731-1694G>A (n.2731-1694G>A)
c.1772G>A (p.Gly591Asp)
n.3323G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944249C>ACA388030438ATP7Bc.*894-1695G>T (n.*894-1695G>T)
c.*1847G>T (n.*1847G>T)
c.2482G>T (p.Gly828Cys)
c.3103G>T (p.Gly1035Cys)
c.2770G>T (p.Gly924Cys)
c.2851G>T (p.Gly951Cys)
c.2869G>T (p.Gly957Cys)
n.3242G>T
n.3466G>T
c.2038G>T (p.Gly680Cys)
c.1813G>T (p.Gly605Cys)
c.2908G>T (p.Gly970Cys)
n.323G>T
c.1022-1695G>T
c.*204G>T (n.*204G>T)
n.3847G>T
n.2448G>T
c.2959G>T (p.Gly987Cys)
n.449G>T
c.3007G>T (p.Gly1003Cys)
c.3067G>T (p.Gly1023Cys)
c.2617G>T (p.Gly873Cys)
c.919G>T (p.Gly307Cys)
c.877-1695G>T (n.877-1695G>T)
c.2968G>T (p.Gly990Cys)
c.3061-1695G>T (n.3061-1695G>T)
c.2689G>T (p.Gly897Cys)
c.2731-1695G>T (n.2731-1695G>T)
c.1771G>T (p.Gly591Cys)
n.3322G>T
13g.51944249C>GCA388030442ATP7Bc.*894-1695G>C (n.*894-1695G>C)
c.*1847G>C (n.*1847G>C)
c.2482G>C (p.Gly828Arg)
c.3103G>C (p.Gly1035Arg)
c.2770G>C (p.Gly924Arg)
c.2851G>C (p.Gly951Arg)
c.2869G>C (p.Gly957Arg)
n.3242G>C
n.3466G>C
c.2038G>C (p.Gly680Arg)
c.1813G>C (p.Gly605Arg)
c.2908G>C (p.Gly970Arg)
n.323G>C
c.1022-1695G>C
c.*204G>C (n.*204G>C)
n.3847G>C
n.2448G>C
c.2959G>C (p.Gly987Arg)
n.449G>C
c.3007G>C (p.Gly1003Arg)
c.3067G>C (p.Gly1023Arg)
c.2617G>C (p.Gly873Arg)
c.919G>C (p.Gly307Arg)
c.877-1695G>C (n.877-1695G>C)
c.2968G>C (p.Gly990Arg)
c.3061-1695G>C (n.3061-1695G>C)
c.2689G>C (p.Gly897Arg)
c.2731-1695G>C (n.2731-1695G>C)
c.1771G>C (p.Gly591Arg)
n.3322G>C
13g.51944249C>TCA388030443ATP7Bc.*894-1695G>A (n.*894-1695G>A)
c.*1847G>A (n.*1847G>A)
c.2482G>A (p.Gly828Ser)
c.3103G>A (p.Gly1035Ser)
c.2770G>A (p.Gly924Ser)
c.2851G>A (p.Gly951Ser)
c.2869G>A (p.Gly957Ser)
n.3242G>A
n.3466G>A
c.2038G>A (p.Gly680Ser)
c.1813G>A (p.Gly605Ser)
c.2908G>A (p.Gly970Ser)
n.323G>A
c.1022-1695G>A
c.*204G>A (n.*204G>A)
n.3847G>A
n.2448G>A
c.2959G>A (p.Gly987Ser)
n.449G>A
c.3007G>A (p.Gly1003Ser)
c.3067G>A (p.Gly1023Ser)
c.2617G>A (p.Gly873Ser)
c.919G>A (p.Gly307Ser)
c.877-1695G>A (n.877-1695G>A)
c.2968G>A (p.Gly990Ser)
c.3061-1695G>A (n.3061-1695G>A)
c.2689G>A (p.Gly897Ser)
c.2731-1695G>A (n.2731-1695G>A)
c.1771G>A (p.Gly591Ser)
n.3322G>A
13g.51944250A=CA2091564130ATP7Bc.*894-1696T= (n.*894-1696T=)
c.*1846T= (n.*1846T=)
c.2481T= (p.His827=)
c.3102T= (p.His1034=)
c.2769T= (p.His923=)
c.2850T= (p.His950=)
c.2868T= (p.His956=)
n.3241T=
n.3465T=
c.2037T= (p.His679=)
c.1812T= (p.His604=)
c.2907T= (p.His969=)
n.322T=
c.1022-1696T=
c.*203T= (n.*203T=)
n.3846T=
n.2447T=
c.2958T= (p.His986=)
n.448T=
c.3006T= (p.His1002=)
c.3066T= (p.His1022=)
c.2616T= (p.His872=)
c.918T= (p.His306=)
c.877-1696T= (n.877-1696T=)
c.2967T= (p.His989=)
c.3061-1696T= (n.3061-1696T=)
c.2688T= (p.His896=)
c.2731-1696T= (n.2731-1696T=)
c.1770T= (p.His590=)
n.3321T=
13g.51944250A>CCA388030444ATP7Bc.*894-1696T>G (n.*894-1696T>G)
c.*1846T>G (n.*1846T>G)
c.2481T>G (p.His827Gln)
c.3102T>G (p.His1034Gln)
c.2769T>G (p.His923Gln)
c.2850T>G (p.His950Gln)
c.2868T>G (p.His956Gln)
n.3241T>G
n.3465T>G
c.2037T>G (p.His679Gln)
c.1812T>G (p.His604Gln)
c.2907T>G (p.His969Gln)
n.322T>G
c.1022-1696T>G
c.*203T>G (n.*203T>G)
n.3846T>G
n.2447T>G
c.2958T>G (p.His986Gln)
n.448T>G
c.3006T>G (p.His1002Gln)
c.3066T>G (p.His1022Gln)
c.2616T>G (p.His872Gln)
c.918T>G (p.His306Gln)
c.877-1696T>G (n.877-1696T>G)
c.2967T>G (p.His989Gln)
c.3061-1696T>G (n.3061-1696T>G)
c.2688T>G (p.His896Gln)
c.2731-1696T>G (n.2731-1696T>G)
c.1770T>G (p.His590Gln)
n.3321T>G
13g.51944250A>GCA483894749ATP7Bc.*894-1696T>C (n.*894-1696T>C)
c.*1846T>C (n.*1846T>C)
c.2481T>C (p.His827=)
c.3102T>C (p.His1034=)
c.2769T>C (p.His923=)
c.2850T>C (p.His950=)
c.2868T>C (p.His956=)
n.3241T>C
n.3465T>C
c.2037T>C (p.His679=)
c.1812T>C (p.His604=)
c.2907T>C (p.His969=)
n.322T>C
c.1022-1696T>C
c.*203T>C (n.*203T>C)
n.3846T>C
n.2447T>C
c.2958T>C (p.His986=)
n.448T>C
c.3006T>C (p.His1002=)
c.3066T>C (p.His1022=)
c.2616T>C (p.His872=)
c.918T>C (p.His306=)
c.877-1696T>C (n.877-1696T>C)
c.2967T>C (p.His989=)
c.3061-1696T>C (n.3061-1696T>C)
c.2688T>C (p.His896=)
c.2731-1696T>C (n.2731-1696T>C)
c.1770T>C (p.His590=)
n.3321T>C
13g.51944250A>TCA388030445ATP7Bc.*894-1696T>A (n.*894-1696T>A)
c.*1846T>A (n.*1846T>A)
c.2481T>A (p.His827Gln)
c.3102T>A (p.His1034Gln)
c.2769T>A (p.His923Gln)
c.2850T>A (p.His950Gln)
c.2868T>A (p.His956Gln)
n.3241T>A
n.3465T>A
c.2037T>A (p.His679Gln)
c.1812T>A (p.His604Gln)
c.2907T>A (p.His969Gln)
n.322T>A
c.1022-1696T>A
c.*203T>A (n.*203T>A)
n.3846T>A
n.2447T>A
c.2958T>A (p.His986Gln)
n.448T>A
c.3006T>A (p.His1002Gln)
c.3066T>A (p.His1022Gln)
c.2616T>A (p.His872Gln)
c.918T>A (p.His306Gln)
c.877-1696T>A (n.877-1696T>A)
c.2967T>A (p.His989Gln)
c.3061-1696T>A (n.3061-1696T>A)
c.2688T>A (p.His896Gln)
c.2731-1696T>A (n.2731-1696T>A)
c.1770T>A (p.His590Gln)
n.3321T>A
13g.51944251T>ACA388030446ATP7Bc.*894-1697A>T (n.*894-1697A>T)
c.*1845A>T (n.*1845A>T)
c.2480A>T (p.His827Leu)
c.3101A>T (p.His1034Leu)
c.2768A>T (p.His923Leu)
c.2849A>T (p.His950Leu)
c.2867A>T (p.His956Leu)
n.3240A>T
n.3464A>T
c.2036A>T (p.His679Leu)
c.1811A>T (p.His604Leu)
c.2906A>T (p.His969Leu)
n.321A>T
c.1022-1697A>T
c.*202A>T (n.*202A>T)
n.3845A>T
n.2446A>T
c.2957A>T (p.His986Leu)
n.447A>T
c.3005A>T (p.His1002Leu)
c.3065A>T (p.His1022Leu)
c.2615A>T (p.His872Leu)
c.917A>T (p.His306Leu)
c.877-1697A>T (n.877-1697A>T)
c.2966A>T (p.His989Leu)
c.3061-1697A>T (n.3061-1697A>T)
c.2687A>T (p.His896Leu)
c.2731-1697A>T (n.2731-1697A>T)
c.1769A>T (p.His590Leu)
n.3320A>T
13g.51944251T>CCA260138ATP7Bc.*894-1697A>G (n.*894-1697A>G)
c.*1845A>G (n.*1845A>G)
c.2480A>G (p.His827Arg)
c.3101A>G (p.His1034Arg)
c.2768A>G (p.His923Arg)
c.2849A>G (p.His950Arg)
c.2867A>G (p.His956Arg)
n.3240A>G
n.3464A>G
c.2036A>G (p.His679Arg)
c.1811A>G (p.His604Arg)
c.2906A>G (p.His969Arg)
n.321A>G
c.1022-1697A>G
c.*202A>G (n.*202A>G)
n.3845A>G
n.2446A>G
c.2957A>G (p.His986Arg)
n.447A>G
c.3005A>G (p.His1002Arg)
c.3065A>G (p.His1022Arg)
c.2615A>G (p.His872Arg)
c.917A>G (p.His306Arg)
c.877-1697A>G (n.877-1697A>G)
c.2966A>G (p.His989Arg)
c.3061-1697A>G (n.3061-1697A>G)
c.2687A>G (p.His896Arg)
c.2731-1697A>G (n.2731-1697A>G)
c.1769A>G (p.His590Arg)
n.3320A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944251T>GCA388030449ATP7Bc.*894-1697A>C (n.*894-1697A>C)
c.*1845A>C (n.*1845A>C)
c.2480A>C (p.His827Pro)
c.3101A>C (p.His1034Pro)
c.2768A>C (p.His923Pro)
c.2849A>C (p.His950Pro)
c.2867A>C (p.His956Pro)
n.3240A>C
n.3464A>C
c.2036A>C (p.His679Pro)
c.1811A>C (p.His604Pro)
c.2906A>C (p.His969Pro)
n.321A>C
c.1022-1697A>C
c.*202A>C (n.*202A>C)
n.3845A>C
n.2446A>C
c.2957A>C (p.His986Pro)
n.447A>C
c.3005A>C (p.His1002Pro)
c.3065A>C (p.His1022Pro)
c.2615A>C (p.His872Pro)
c.917A>C (p.His306Pro)
c.877-1697A>C (n.877-1697A>C)
c.2966A>C (p.His989Pro)
c.3061-1697A>C (n.3061-1697A>C)
c.2687A>C (p.His896Pro)
c.2731-1697A>C (n.2731-1697A>C)
c.1769A>C (p.His590Pro)
n.3320A>C
13g.51944251T=CA2091564141ATP7Bc.*894-1697A= (n.*894-1697A=)
c.*1845A= (n.*1845A=)
c.2480A= (p.His827=)
c.3101A= (p.His1034=)
c.2768A= (p.His923=)
c.2849A= (p.His950=)
c.2867A= (p.His956=)
n.3240A=
n.3464A=
c.2036A= (p.His679=)
c.1811A= (p.His604=)
c.2906A= (p.His969=)
n.321A=
c.1022-1697A=
c.*202A= (n.*202A=)
n.3845A=
n.2446A=
c.2957A= (p.His986=)
n.447A=
c.3005A= (p.His1002=)
c.3065A= (p.His1022=)
c.2615A= (p.His872=)
c.917A= (p.His306=)
c.877-1697A= (n.877-1697A=)
c.2966A= (p.His989=)
c.3061-1697A= (n.3061-1697A=)
c.2687A= (p.His896=)
c.2731-1697A= (n.2731-1697A=)
c.1769A= (p.His590=)
n.3320A=
13g.51944251dupCA1139663303ATP7Bc.*894-1697dup (n.*894-1697dup)
c.*1845dup (n.*1845dup)
c.2480dup (p.His827GlnfsTer?)
c.3101dup (p.His1034GlnfsTer?)
c.2768dup (p.His923GlnfsTer?)
c.2849dup (p.His950GlnfsTer?)
c.2867dup (p.His956GlnfsTer?)
n.3240dup
n.3464dup
c.2036dup (p.His679GlnfsTer?)
c.1811dup (p.His604GlnfsTer?)
c.2906dup (p.His969GlnfsTer?)
n.321dup
c.1022-1697dup
c.*202dup (n.*202dup)
n.3845dup
n.2446dup
c.2957dup (p.His986GlnfsTer?)
n.447dup
c.3005dup (p.His1002GlnfsTer?)
c.3065dup (p.His1022GlnfsTer?)
c.2615dup (p.His872GlnfsTer?)
c.917dup (p.His306GlnfsTer?)
c.877-1697dup (n.877-1697dup)
c.2966dup (p.His989GlnfsTer?)
c.3061-1697dup (n.3061-1697dup)
c.2687dup (p.His896GlnfsTer?)
c.2731-1697dup (n.2731-1697dup)
c.1769dup (p.His590GlnfsTer?)
n.3320dup
 ClinVar dbSNP
13g.51944252G>ACA388030454ATP7Bc.*894-1698C>T (n.*894-1698C>T)
c.*1844C>T (n.*1844C>T)
c.2479C>T (p.His827Tyr)
c.3100C>T (p.His1034Tyr)
c.2767C>T (p.His923Tyr)
c.2848C>T (p.His950Tyr)
c.2866C>T (p.His956Tyr)
n.3239C>T
n.3463C>T
c.2035C>T (p.His679Tyr)
c.1810C>T (p.His604Tyr)
c.2905C>T (p.His969Tyr)
n.320C>T
c.1022-1698C>T
c.*201C>T (n.*201C>T)
n.3844C>T
n.2445C>T
c.2956C>T (p.His986Tyr)
n.446C>T
c.3004C>T (p.His1002Tyr)
c.3064C>T (p.His1022Tyr)
c.2614C>T (p.His872Tyr)
c.916C>T (p.His306Tyr)
c.877-1698C>T (n.877-1698C>T)
c.2965C>T (p.His989Tyr)
c.3061-1698C>T (n.3061-1698C>T)
c.2686C>T (p.His896Tyr)
c.2731-1698C>T (n.2731-1698C>T)
c.1768C>T (p.His590Tyr)
n.3319C>T
13g.51944252G>CCA388030457ATP7Bc.*894-1698C>G (n.*894-1698C>G)
c.*1844C>G (n.*1844C>G)
c.2479C>G (p.His827Asp)
c.3100C>G (p.His1034Asp)
c.2767C>G (p.His923Asp)
c.2848C>G (p.His950Asp)
c.2866C>G (p.His956Asp)
n.3239C>G
n.3463C>G
c.2035C>G (p.His679Asp)
c.1810C>G (p.His604Asp)
c.2905C>G (p.His969Asp)
n.320C>G
c.1022-1698C>G
c.*201C>G (n.*201C>G)
n.3844C>G
n.2445C>G
c.2956C>G (p.His986Asp)
n.446C>G
c.3004C>G (p.His1002Asp)
c.3064C>G (p.His1022Asp)
c.2614C>G (p.His872Asp)
c.916C>G (p.His306Asp)
c.877-1698C>G (n.877-1698C>G)
c.2965C>G (p.His989Asp)
c.3061-1698C>G (n.3061-1698C>G)
c.2686C>G (p.His896Asp)
c.2731-1698C>G (n.2731-1698C>G)
c.1768C>G (p.His590Asp)
n.3319C>G
 gnomAD v4
13g.51944252G=CA2091564149ATP7Bc.*894-1698C= (n.*894-1698C=)
c.*1844C= (n.*1844C=)
c.2479C= (p.His827=)
c.3100C= (p.His1034=)
c.2767C= (p.His923=)
c.2848C= (p.His950=)
c.2866C= (p.His956=)
n.3239C=
n.3463C=
c.2035C= (p.His679=)
c.1810C= (p.His604=)
c.2905C= (p.His969=)
n.320C=
c.1022-1698C=
c.*201C= (n.*201C=)
n.3844C=
n.2445C=
c.2956C= (p.His986=)
n.446C=
c.3004C= (p.His1002=)
c.3064C= (p.His1022=)
c.2614C= (p.His872=)
c.916C= (p.His306=)
c.877-1698C= (n.877-1698C=)
c.2965C= (p.His989=)
c.3061-1698C= (n.3061-1698C=)
c.2686C= (p.His896=)
c.2731-1698C= (n.2731-1698C=)
c.1768C= (p.His590=)
n.3319C=
13g.51944252G>TCA388030462ATP7Bc.*894-1698C>A (n.*894-1698C>A)
c.*1844C>A (n.*1844C>A)
c.2479C>A (p.His827Asn)
c.3100C>A (p.His1034Asn)
c.2767C>A (p.His923Asn)
c.2848C>A (p.His950Asn)
c.2866C>A (p.His956Asn)
n.3239C>A
n.3463C>A
c.2035C>A (p.His679Asn)
c.1810C>A (p.His604Asn)
c.2905C>A (p.His969Asn)
n.320C>A
c.1022-1698C>A
c.*201C>A (n.*201C>A)
n.3844C>A
n.2445C>A
c.2956C>A (p.His986Asn)
n.446C>A
c.3004C>A (p.His1002Asn)
c.3064C>A (p.His1022Asn)
c.2614C>A (p.His872Asn)
c.916C>A (p.His306Asn)
c.877-1698C>A (n.877-1698C>A)
c.2965C>A (p.His989Asn)
c.3061-1698C>A (n.3061-1698C>A)
c.2686C>A (p.His896Asn)
c.2731-1698C>A (n.2731-1698C>A)
c.1768C>A (p.His590Asn)
n.3319C>A
13g.51944253G>ACA483894750ATP7Bc.*894-1699C>T (n.*894-1699C>T)
c.*1843C>T (n.*1843C>T)
c.2478C>T (p.Thr826=)
c.3099C>T (p.Thr1033=)
c.2766C>T (p.Thr922=)
c.2847C>T (p.Thr949=)
c.2865C>T (p.Thr955=)
n.3238C>T
n.3462C>T
c.2034C>T (p.Thr678=)
c.1809C>T (p.Thr603=)
c.2904C>T (p.Thr968=)
n.319C>T
c.1022-1699C>T
c.*200C>T (n.*200C>T)
n.3843C>T
n.2444C>T
c.2955C>T (p.Thr985=)
n.445C>T
c.3003C>T (p.Thr1001=)
c.3063C>T (p.Thr1021=)
c.2613C>T (p.Thr871=)
c.915C>T (p.Thr305=)
c.877-1699C>T (n.877-1699C>T)
c.2964C>T (p.Thr988=)
c.3061-1699C>T (n.3061-1699C>T)
c.2685C>T (p.Thr895=)
c.2731-1699C>T (n.2731-1699C>T)
c.1767C>T (p.Thr589=)
n.3318C>T
 ClinVar
13g.51944253G>CCA483894751ATP7Bc.*894-1699C>G (n.*894-1699C>G)
c.*1843C>G (n.*1843C>G)
c.2478C>G (p.Thr826=)
c.3099C>G (p.Thr1033=)
c.2766C>G (p.Thr922=)
c.2847C>G (p.Thr949=)
c.2865C>G (p.Thr955=)
n.3238C>G
n.3462C>G
c.2034C>G (p.Thr678=)
c.1809C>G (p.Thr603=)
c.2904C>G (p.Thr968=)
n.319C>G
c.1022-1699C>G
c.*200C>G (n.*200C>G)
n.3843C>G
n.2444C>G
c.2955C>G (p.Thr985=)
n.445C>G
c.3003C>G (p.Thr1001=)
c.3063C>G (p.Thr1021=)
c.2613C>G (p.Thr871=)
c.915C>G (p.Thr305=)
c.877-1699C>G (n.877-1699C>G)
c.2964C>G (p.Thr988=)
c.3061-1699C>G (n.3061-1699C>G)
c.2685C>G (p.Thr895=)
c.2731-1699C>G (n.2731-1699C>G)
c.1767C>G (p.Thr589=)
n.3318C>G
13g.51944253G>TCA483894752ATP7Bc.*894-1699C>A (n.*894-1699C>A)
c.*1843C>A (n.*1843C>A)
c.2478C>A (p.Thr826=)
c.3099C>A (p.Thr1033=)
c.2766C>A (p.Thr922=)
c.2847C>A (p.Thr949=)
c.2865C>A (p.Thr955=)
n.3238C>A
n.3462C>A
c.2034C>A (p.Thr678=)
c.1809C>A (p.Thr603=)
c.2904C>A (p.Thr968=)
n.319C>A
c.1022-1699C>A
c.*200C>A (n.*200C>A)
n.3843C>A
n.2444C>A
c.2955C>A (p.Thr985=)
n.445C>A
c.3003C>A (p.Thr1001=)
c.3063C>A (p.Thr1021=)
c.2613C>A (p.Thr871=)
c.915C>A (p.Thr305=)
c.877-1699C>A (n.877-1699C>A)
c.2964C>A (p.Thr988=)
c.3061-1699C>A (n.3061-1699C>A)
c.2685C>A (p.Thr895=)
c.2731-1699C>A (n.2731-1699C>A)
c.1767C>A (p.Thr589=)
n.3318C>A
13g.51944256_51944261dupCA2091564158ATP7Bc.*894-1704_*894-1699dup (n.*894-1704_*894-1699dup)
c.*1838_*1843dup (n.*1838_*1843dup)
c.2473_2478dup (p.Thr826_His827insIleThr)
c.3094_3099dup (p.Thr1033_His1034insIleThr)
c.2761_2766dup (p.Thr922_His923insIleThr)
c.2842_2847dup (p.Thr949_His950insIleThr)
c.2860_2865dup (p.Thr955_His956insIleThr)
n.3233_3238dup
n.3457_3462dup
c.2029_2034dup (p.Thr678_His679insIleThr)
c.1804_1809dup (p.Thr603_His604insIleThr)
c.2899_2904dup (p.Thr968_His969insIleThr)
n.314_319dup
c.1022-1704_1022-1699dup
c.*195_*200dup (n.*195_*200dup)
n.3838_3843dup
n.2439_2444dup
c.2950_2955dup (p.Thr985_His986insIleThr)
n.440_445dup
c.2998_3003dup (p.Thr1001_His1002insIleThr)
c.3058_3063dup (p.Thr1021_His1022insIleThr)
c.2608_2613dup (p.Thr871_His872insIleThr)
c.910_915dup (p.Thr305_His306insIleThr)
c.877-1704_877-1699dup (n.877-1704_877-1699dup)
c.2959_2964dup (p.Thr988_His989insIleThr)
c.3061-1704_3061-1699dup (n.3061-1704_3061-1699dup)
c.2680_2685dup (p.Thr895_His896insIleThr)
c.2731-1704_2731-1699dup (n.2731-1704_2731-1699dup)
c.1762_1767dup (p.Thr589_His590insIleThr)
n.3313_3318dup
 dbSNP
13g.51944254G>ACA388030475ATP7Bc.*894-1700C>T (n.*894-1700C>T)
c.*1842C>T (n.*1842C>T)
c.2477C>T (p.Thr826Ile)
c.3098C>T (p.Thr1033Ile)
c.2765C>T (p.Thr922Ile)
c.2846C>T (p.Thr949Ile)
c.2864C>T (p.Thr955Ile)
n.3237C>T
n.3461C>T
c.2033C>T (p.Thr678Ile)
c.1808C>T (p.Thr603Ile)
c.2903C>T (p.Thr968Ile)
n.318C>T
c.1022-1700C>T
c.*199C>T (n.*199C>T)
n.3842C>T
n.2443C>T
c.2954C>T (p.Thr985Ile)
n.444C>T
c.3002C>T (p.Thr1001Ile)
c.3062C>T (p.Thr1021Ile)
c.2612C>T (p.Thr871Ile)
c.914C>T (p.Thr305Ile)
c.877-1700C>T (n.877-1700C>T)
c.2963C>T (p.Thr988Ile)
c.3061-1700C>T (n.3061-1700C>T)
c.2684C>T (p.Thr895Ile)
c.2731-1700C>T (n.2731-1700C>T)
c.1766C>T (p.Thr589Ile)
n.3317C>T
13g.51944254G>CCA388030494ATP7Bc.*894-1700C>G (n.*894-1700C>G)
c.*1842C>G (n.*1842C>G)
c.2477C>G (p.Thr826Ser)
c.3098C>G (p.Thr1033Ser)
c.2765C>G (p.Thr922Ser)
c.2846C>G (p.Thr949Ser)
c.2864C>G (p.Thr955Ser)
n.3237C>G
n.3461C>G
c.2033C>G (p.Thr678Ser)
c.1808C>G (p.Thr603Ser)
c.2903C>G (p.Thr968Ser)
n.318C>G
c.1022-1700C>G
c.*199C>G (n.*199C>G)
n.3842C>G
n.2443C>G
c.2954C>G (p.Thr985Ser)
n.444C>G
c.3002C>G (p.Thr1001Ser)
c.3062C>G (p.Thr1021Ser)
c.2612C>G (p.Thr871Ser)
c.914C>G (p.Thr305Ser)
c.877-1700C>G (n.877-1700C>G)
c.2963C>G (p.Thr988Ser)
c.3061-1700C>G (n.3061-1700C>G)
c.2684C>G (p.Thr895Ser)
c.2731-1700C>G (n.2731-1700C>G)
c.1766C>G (p.Thr589Ser)
n.3317C>G
13g.51944254G>TCA388030472ATP7Bc.*894-1700C>A (n.*894-1700C>A)
c.*1842C>A (n.*1842C>A)
c.2477C>A (p.Thr826Asn)
c.3098C>A (p.Thr1033Asn)
c.2765C>A (p.Thr922Asn)
c.2846C>A (p.Thr949Asn)
c.2864C>A (p.Thr955Asn)
n.3237C>A
n.3461C>A
c.2033C>A (p.Thr678Asn)
c.1808C>A (p.Thr603Asn)
c.2903C>A (p.Thr968Asn)
n.318C>A
c.1022-1700C>A
c.*199C>A (n.*199C>A)
n.3842C>A
n.2443C>A
c.2954C>A (p.Thr985Asn)
n.444C>A
c.3002C>A (p.Thr1001Asn)
c.3062C>A (p.Thr1021Asn)
c.2612C>A (p.Thr871Asn)
c.914C>A (p.Thr305Asn)
c.877-1700C>A (n.877-1700C>A)
c.2963C>A (p.Thr988Asn)
c.3061-1700C>A (n.3061-1700C>A)
c.2684C>A (p.Thr895Asn)
c.2731-1700C>A (n.2731-1700C>A)
c.1766C>A (p.Thr589Asn)
n.3317C>A
13g.51944255T>ACA388030498ATP7Bc.*894-1701A>T (n.*894-1701A>T)
c.*1841A>T (n.*1841A>T)
c.2476A>T (p.Thr826Ser)
c.3097A>T (p.Thr1033Ser)
c.2764A>T (p.Thr922Ser)
c.2845A>T (p.Thr949Ser)
c.2863A>T (p.Thr955Ser)
n.3236A>T
n.3460A>T
c.2032A>T (p.Thr678Ser)
c.1807A>T (p.Thr603Ser)
c.2902A>T (p.Thr968Ser)
n.317A>T
c.1022-1701A>T
c.*198A>T (n.*198A>T)
n.3841A>T
n.2442A>T
c.2953A>T (p.Thr985Ser)
n.443A>T
c.3001A>T (p.Thr1001Ser)
c.3061A>T (p.Thr1021Ser)
c.2611A>T (p.Thr871Ser)
c.913A>T (p.Thr305Ser)
c.877-1701A>T (n.877-1701A>T)
c.2962A>T (p.Thr988Ser)
c.3061-1701A>T (n.3061-1701A>T)
c.2683A>T (p.Thr895Ser)
c.2731-1701A>T (n.2731-1701A>T)
c.1765A>T (p.Thr589Ser)
n.3316A>T
13g.51944255T>CCA388030499ATP7Bc.*894-1701A>G (n.*894-1701A>G)
c.*1841A>G (n.*1841A>G)
c.2476A>G (p.Thr826Ala)
c.3097A>G (p.Thr1033Ala)
c.2764A>G (p.Thr922Ala)
c.2845A>G (p.Thr949Ala)
c.2863A>G (p.Thr955Ala)
n.3236A>G
n.3460A>G
c.2032A>G (p.Thr678Ala)
c.1807A>G (p.Thr603Ala)
c.2902A>G (p.Thr968Ala)
n.317A>G
c.1022-1701A>G
c.*198A>G (n.*198A>G)
n.3841A>G
n.2442A>G
c.2953A>G (p.Thr985Ala)
n.443A>G
c.3001A>G (p.Thr1001Ala)
c.3061A>G (p.Thr1021Ala)
c.2611A>G (p.Thr871Ala)
c.913A>G (p.Thr305Ala)
c.877-1701A>G (n.877-1701A>G)
c.2962A>G (p.Thr988Ala)
c.3061-1701A>G (n.3061-1701A>G)
c.2683A>G (p.Thr895Ala)
c.2731-1701A>G (n.2731-1701A>G)
c.1765A>G (p.Thr589Ala)
n.3316A>G
 ClinVar dbSNP
13g.51944255T>GCA388030500ATP7Bc.*894-1701A>C (n.*894-1701A>C)
c.*1841A>C (n.*1841A>C)
c.2476A>C (p.Thr826Pro)
c.3097A>C (p.Thr1033Pro)
c.2764A>C (p.Thr922Pro)
c.2845A>C (p.Thr949Pro)
c.2863A>C (p.Thr955Pro)
n.3236A>C
n.3460A>C
c.2032A>C (p.Thr678Pro)
c.1807A>C (p.Thr603Pro)
c.2902A>C (p.Thr968Pro)
n.317A>C
c.1022-1701A>C
c.*198A>C (n.*198A>C)
n.3841A>C
n.2442A>C
c.2953A>C (p.Thr985Pro)
n.443A>C
c.3001A>C (p.Thr1001Pro)
c.3061A>C (p.Thr1021Pro)
c.2611A>C (p.Thr871Pro)
c.913A>C (p.Thr305Pro)
c.877-1701A>C (n.877-1701A>C)
c.2962A>C (p.Thr988Pro)
c.3061-1701A>C (n.3061-1701A>C)
c.2683A>C (p.Thr895Pro)
c.2731-1701A>C (n.2731-1701A>C)
c.1765A>C (p.Thr589Pro)
n.3316A>C
13g.51944255T=CA2091564166ATP7Bc.*894-1701A= (n.*894-1701A=)
c.*1841A= (n.*1841A=)
c.2476A= (p.Thr826=)
c.3097A= (p.Thr1033=)
c.2764A= (p.Thr922=)
c.2845A= (p.Thr949=)
c.2863A= (p.Thr955=)
n.3236A=
n.3460A=
c.2032A= (p.Thr678=)
c.1807A= (p.Thr603=)
c.2902A= (p.Thr968=)
n.317A=
c.1022-1701A=
c.*198A= (n.*198A=)
n.3841A=
n.2442A=
c.2953A= (p.Thr985=)
n.443A=
c.3001A= (p.Thr1001=)
c.3061A= (p.Thr1021=)
c.2611A= (p.Thr871=)
c.913A= (p.Thr305=)
c.877-1701A= (n.877-1701A=)
c.2962A= (p.Thr988=)
c.3061-1701A= (n.3061-1701A=)
c.2683A= (p.Thr895=)
c.2731-1701A= (n.2731-1701A=)
c.1765A= (p.Thr589=)
n.3316A=
13g.51944256A>CCA388030501ATP7Bc.*894-1702T>G (n.*894-1702T>G)
c.*1840T>G (n.*1840T>G)
c.2475T>G (p.Ile825Met)
c.3096T>G (p.Ile1032Met)
c.2763T>G (p.Ile921Met)
c.2844T>G (p.Ile948Met)
c.2862T>G (p.Ile954Met)
n.3235T>G
n.3459T>G
c.2031T>G (p.Ile677Met)
c.1806T>G (p.Ile602Met)
c.2901T>G (p.Ile967Met)
n.316T>G
c.1022-1702T>G
c.*197T>G (n.*197T>G)
n.3840T>G
n.2441T>G
c.2952T>G (p.Ile984Met)
n.442T>G
c.3000T>G (p.Ile1000Met)
c.3060T>G (p.Ile1020Met)
c.2610T>G (p.Ile870Met)
c.912T>G (p.Ile304Met)
c.877-1702T>G (n.877-1702T>G)
c.2961T>G (p.Ile987Met)
c.3061-1702T>G (n.3061-1702T>G)
c.2682T>G (p.Ile894Met)
c.2731-1702T>G (n.2731-1702T>G)
c.1764T>G (p.Ile588Met)
n.3315T>G
13g.51944256A>GCA483894754ATP7Bc.*894-1702T>C (n.*894-1702T>C)
c.*1840T>C (n.*1840T>C)
c.2475T>C (p.Ile825=)
c.3096T>C (p.Ile1032=)
c.2763T>C (p.Ile921=)
c.2844T>C (p.Ile948=)
c.2862T>C (p.Ile954=)
n.3235T>C
n.3459T>C
c.2031T>C (p.Ile677=)
c.1806T>C (p.Ile602=)
c.2901T>C (p.Ile967=)
n.316T>C
c.1022-1702T>C
c.*197T>C (n.*197T>C)
n.3840T>C
n.2441T>C
c.2952T>C (p.Ile984=)
n.442T>C
c.3000T>C (p.Ile1000=)
c.3060T>C (p.Ile1020=)
c.2610T>C (p.Ile870=)
c.912T>C (p.Ile304=)
c.877-1702T>C (n.877-1702T>C)
c.2961T>C (p.Ile987=)
c.3061-1702T>C (n.3061-1702T>C)
c.2682T>C (p.Ile894=)
c.2731-1702T>C (n.2731-1702T>C)
c.1764T>C (p.Ile588=)
n.3315T>C
 gnomAD v4
13g.51944256A>TCA483894753ATP7Bc.*894-1702T>A (n.*894-1702T>A)
c.*1840T>A (n.*1840T>A)
c.2475T>A (p.Ile825=)
c.3096T>A (p.Ile1032=)
c.2763T>A (p.Ile921=)
c.2844T>A (p.Ile948=)
c.2862T>A (p.Ile954=)
n.3235T>A
n.3459T>A
c.2031T>A (p.Ile677=)
c.1806T>A (p.Ile602=)
c.2901T>A (p.Ile967=)
n.316T>A
c.1022-1702T>A
c.*197T>A (n.*197T>A)
n.3840T>A
n.2441T>A
c.2952T>A (p.Ile984=)
n.442T>A
c.3000T>A (p.Ile1000=)
c.3060T>A (p.Ile1020=)
c.2610T>A (p.Ile870=)
c.912T>A (p.Ile304=)
c.877-1702T>A (n.877-1702T>A)
c.2961T>A (p.Ile987=)
c.3061-1702T>A (n.3061-1702T>A)
c.2682T>A (p.Ile894=)
c.2731-1702T>A (n.2731-1702T>A)
c.1764T>A (p.Ile588=)
n.3315T>A
13g.51944257A>CCA388030504ATP7Bc.*894-1703T>G (n.*894-1703T>G)
c.*1839T>G (n.*1839T>G)
c.2474T>G (p.Ile825Ser)
c.3095T>G (p.Ile1032Ser)
c.2762T>G (p.Ile921Ser)
c.2843T>G (p.Ile948Ser)
c.2861T>G (p.Ile954Ser)
n.3234T>G
n.3458T>G
c.2030T>G (p.Ile677Ser)
c.1805T>G (p.Ile602Ser)
c.2900T>G (p.Ile967Ser)
n.315T>G
c.1022-1703T>G
c.*196T>G (n.*196T>G)
n.3839T>G
n.2440T>G
c.2951T>G (p.Ile984Ser)
n.441T>G
c.2999T>G (p.Ile1000Ser)
c.3059T>G (p.Ile1020Ser)
c.2609T>G (p.Ile870Ser)
c.911T>G (p.Ile304Ser)
c.877-1703T>G (n.877-1703T>G)
c.2960T>G (p.Ile987Ser)
c.3061-1703T>G (n.3061-1703T>G)
c.2681T>G (p.Ile894Ser)
c.2731-1703T>G (n.2731-1703T>G)
c.1763T>G (p.Ile588Ser)
n.3314T>G
13g.51944257A>GCA388030503ATP7Bc.*894-1703T>C (n.*894-1703T>C)
c.*1839T>C (n.*1839T>C)
c.2474T>C (p.Ile825Thr)
c.3095T>C (p.Ile1032Thr)
c.2762T>C (p.Ile921Thr)
c.2843T>C (p.Ile948Thr)
c.2861T>C (p.Ile954Thr)
n.3234T>C
n.3458T>C
c.2030T>C (p.Ile677Thr)
c.1805T>C (p.Ile602Thr)
c.2900T>C (p.Ile967Thr)
n.315T>C
c.1022-1703T>C
c.*196T>C (n.*196T>C)
n.3839T>C
n.2440T>C
c.2951T>C (p.Ile984Thr)
n.441T>C
c.2999T>C (p.Ile1000Thr)
c.3059T>C (p.Ile1020Thr)
c.2609T>C (p.Ile870Thr)
c.911T>C (p.Ile304Thr)
c.877-1703T>C (n.877-1703T>C)
c.2960T>C (p.Ile987Thr)
c.3061-1703T>C (n.3061-1703T>C)
c.2681T>C (p.Ile894Thr)
c.2731-1703T>C (n.2731-1703T>C)
c.1763T>C (p.Ile588Thr)
n.3314T>C
 gnomAD v4
13g.51944257A>TCA388030502ATP7Bc.*894-1703T>A (n.*894-1703T>A)
c.*1839T>A (n.*1839T>A)
c.2474T>A (p.Ile825Asn)
c.3095T>A (p.Ile1032Asn)
c.2762T>A (p.Ile921Asn)
c.2843T>A (p.Ile948Asn)
c.2861T>A (p.Ile954Asn)
n.3234T>A
n.3458T>A
c.2030T>A (p.Ile677Asn)
c.1805T>A (p.Ile602Asn)
c.2900T>A (p.Ile967Asn)
n.315T>A
c.1022-1703T>A
c.*196T>A (n.*196T>A)
n.3839T>A
n.2440T>A
c.2951T>A (p.Ile984Asn)
n.441T>A
c.2999T>A (p.Ile1000Asn)
c.3059T>A (p.Ile1020Asn)
c.2609T>A (p.Ile870Asn)
c.911T>A (p.Ile304Asn)
c.877-1703T>A (n.877-1703T>A)
c.2960T>A (p.Ile987Asn)
c.3061-1703T>A (n.3061-1703T>A)
c.2681T>A (p.Ile894Asn)
c.2731-1703T>A (n.2731-1703T>A)
c.1763T>A (p.Ile588Asn)
n.3314T>A
13g.51944258T>ACA388030505ATP7Bc.*894-1704A>T (n.*894-1704A>T)
c.*1838A>T (n.*1838A>T)
c.2473A>T (p.Ile825Phe)
c.3094A>T (p.Ile1032Phe)
c.2761A>T (p.Ile921Phe)
c.2842A>T (p.Ile948Phe)
c.2860A>T (p.Ile954Phe)
n.3233A>T
n.3457A>T
c.2029A>T (p.Ile677Phe)
c.1804A>T (p.Ile602Phe)
c.2899A>T (p.Ile967Phe)
n.314A>T
c.1022-1704A>T
c.*195A>T (n.*195A>T)
n.3838A>T
n.2439A>T
c.2950A>T (p.Ile984Phe)
n.440A>T
c.2998A>T (p.Ile1000Phe)
c.3058A>T (p.Ile1020Phe)
c.2608A>T (p.Ile870Phe)
c.910A>T (p.Ile304Phe)
c.877-1704A>T (n.877-1704A>T)
c.2959A>T (p.Ile987Phe)
c.3061-1704A>T (n.3061-1704A>T)
c.2680A>T (p.Ile894Phe)
c.2731-1704A>T (n.2731-1704A>T)
c.1762A>T (p.Ile588Phe)
n.3313A>T
13g.51944258T>CCA6988810ATP7Bc.*894-1704A>G (n.*894-1704A>G)
c.*1838A>G (n.*1838A>G)
c.2473A>G (p.Ile825Val)
c.3094A>G (p.Ile1032Val)
c.2761A>G (p.Ile921Val)
c.2842A>G (p.Ile948Val)
c.2860A>G (p.Ile954Val)
n.3233A>G
n.3457A>G
c.2029A>G (p.Ile677Val)
c.1804A>G (p.Ile602Val)
c.2899A>G (p.Ile967Val)
n.314A>G
c.1022-1704A>G
c.*195A>G (n.*195A>G)
n.3838A>G
n.2439A>G
c.2950A>G (p.Ile984Val)
n.440A>G
c.2998A>G (p.Ile1000Val)
c.3058A>G (p.Ile1020Val)
c.2608A>G (p.Ile870Val)
c.910A>G (p.Ile304Val)
c.877-1704A>G (n.877-1704A>G)
c.2959A>G (p.Ile987Val)
c.3061-1704A>G (n.3061-1704A>G)
c.2680A>G (p.Ile894Val)
c.2731-1704A>G (n.2731-1704A>G)
c.1762A>G (p.Ile588Val)
n.3313A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944258T>GCA388030509ATP7Bc.*894-1704A>C (n.*894-1704A>C)
c.*1838A>C (n.*1838A>C)
c.2473A>C (p.Ile825Leu)
c.3094A>C (p.Ile1032Leu)
c.2761A>C (p.Ile921Leu)
c.2842A>C (p.Ile948Leu)
c.2860A>C (p.Ile954Leu)
n.3233A>C
n.3457A>C
c.2029A>C (p.Ile677Leu)
c.1804A>C (p.Ile602Leu)
c.2899A>C (p.Ile967Leu)
n.314A>C
c.1022-1704A>C
c.*195A>C (n.*195A>C)
n.3838A>C
n.2439A>C
c.2950A>C (p.Ile984Leu)
n.440A>C
c.2998A>C (p.Ile1000Leu)
c.3058A>C (p.Ile1020Leu)
c.2608A>C (p.Ile870Leu)
c.910A>C (p.Ile304Leu)
c.877-1704A>C (n.877-1704A>C)
c.2959A>C (p.Ile987Leu)
c.3061-1704A>C (n.3061-1704A>C)
c.2680A>C (p.Ile894Leu)
c.2731-1704A>C (n.2731-1704A>C)
c.1762A>C (p.Ile588Leu)
n.3313A>C
13g.51944258T=CA2091564174ATP7Bc.*894-1704A= (n.*894-1704A=)
c.*1838A= (n.*1838A=)
c.2473A= (p.Ile825=)
c.3094A= (p.Ile1032=)
c.2761A= (p.Ile921=)
c.2842A= (p.Ile948=)
c.2860A= (p.Ile954=)
n.3233A=
n.3457A=
c.2029A= (p.Ile677=)
c.1804A= (p.Ile602=)
c.2899A= (p.Ile967=)
n.314A=
c.1022-1704A=
c.*195A= (n.*195A=)
n.3838A=
n.2439A=
c.2950A= (p.Ile984=)
n.440A=
c.2998A= (p.Ile1000=)
c.3058A= (p.Ile1020=)
c.2608A= (p.Ile870=)
c.910A= (p.Ile304=)
c.877-1704A= (n.877-1704A=)
c.2959A= (p.Ile987=)
c.3061-1704A= (n.3061-1704A=)
c.2680A= (p.Ile894=)
c.2731-1704A= (n.2731-1704A=)
c.1762A= (p.Ile588=)
n.3313A=
13g.51944259G>ACA483894755ATP7Bc.*894-1705C>T (n.*894-1705C>T)
c.*1837C>T (n.*1837C>T)
c.2472C>T (p.Thr824=)
c.3093C>T (p.Thr1031=)
c.2760C>T (p.Thr920=)
c.2841C>T (p.Thr947=)
c.2859C>T (p.Thr953=)
n.3232C>T
n.3456C>T
c.2028C>T (p.Thr676=)
c.1803C>T (p.Thr601=)
c.2898C>T (p.Thr966=)
n.313C>T
c.1022-1705C>T
c.*194C>T (n.*194C>T)
n.3837C>T
n.2438C>T
c.2949C>T (p.Thr983=)
n.439C>T
c.2997C>T (p.Thr999=)
c.3057C>T (p.Thr1019=)
c.2607C>T (p.Thr869=)
c.909C>T (p.Thr303=)
c.877-1705C>T (n.877-1705C>T)
c.2958C>T (p.Thr986=)
c.3061-1705C>T (n.3061-1705C>T)
c.2679C>T (p.Thr893=)
c.2731-1705C>T (n.2731-1705C>T)
c.1761C>T (p.Thr587=)
n.3312C>T
13g.51944259G>CCA483894756ATP7Bc.*894-1705C>G (n.*894-1705C>G)
c.*1837C>G (n.*1837C>G)
c.2472C>G (p.Thr824=)
c.3093C>G (p.Thr1031=)
c.2760C>G (p.Thr920=)
c.2841C>G (p.Thr947=)
c.2859C>G (p.Thr953=)
n.3232C>G
n.3456C>G
c.2028C>G (p.Thr676=)
c.1803C>G (p.Thr601=)
c.2898C>G (p.Thr966=)
n.313C>G
c.1022-1705C>G
c.*194C>G (n.*194C>G)
n.3837C>G
n.2438C>G
c.2949C>G (p.Thr983=)
n.439C>G
c.2997C>G (p.Thr999=)
c.3057C>G (p.Thr1019=)
c.2607C>G (p.Thr869=)
c.909C>G (p.Thr303=)
c.877-1705C>G (n.877-1705C>G)
c.2958C>G (p.Thr986=)
c.3061-1705C>G (n.3061-1705C>G)
c.2679C>G (p.Thr893=)
c.2731-1705C>G (n.2731-1705C>G)
c.1761C>G (p.Thr587=)
n.3312C>G
 gnomAD v4
13g.51944259G>TCA483894757ATP7Bc.*894-1705C>A (n.*894-1705C>A)
c.*1837C>A (n.*1837C>A)
c.2472C>A (p.Thr824=)
c.3093C>A (p.Thr1031=)
c.2760C>A (p.Thr920=)
c.2841C>A (p.Thr947=)
c.2859C>A (p.Thr953=)
n.3232C>A
n.3456C>A
c.2028C>A (p.Thr676=)
c.1803C>A (p.Thr601=)
c.2898C>A (p.Thr966=)
n.313C>A
c.1022-1705C>A
c.*194C>A (n.*194C>A)
n.3837C>A
n.2438C>A
c.2949C>A (p.Thr983=)
n.439C>A
c.2997C>A (p.Thr999=)
c.3057C>A (p.Thr1019=)
c.2607C>A (p.Thr869=)
c.909C>A (p.Thr303=)
c.877-1705C>A (n.877-1705C>A)
c.2958C>A (p.Thr986=)
c.3061-1705C>A (n.3061-1705C>A)
c.2679C>A (p.Thr893=)
c.2731-1705C>A (n.2731-1705C>A)
c.1761C>A (p.Thr587=)
n.3312C>A
 COSMIC
13g.51944260G>ACA388030514ATP7Bc.*894-1706C>T (n.*894-1706C>T)
c.*1836C>T (n.*1836C>T)
c.2471C>T (p.Thr824Ile)
c.3092C>T (p.Thr1031Ile)
c.2759C>T (p.Thr920Ile)
c.2840C>T (p.Thr947Ile)
c.2858C>T (p.Thr953Ile)
n.3231C>T
n.3455C>T
c.2027C>T (p.Thr676Ile)
c.1802C>T (p.Thr601Ile)
c.2897C>T (p.Thr966Ile)
n.312C>T
c.1022-1706C>T
c.*193C>T (n.*193C>T)
n.3836C>T
n.2437C>T
c.2948C>T (p.Thr983Ile)
n.438C>T
c.2996C>T (p.Thr999Ile)
c.3056C>T (p.Thr1019Ile)
c.2606C>T (p.Thr869Ile)
c.908C>T (p.Thr303Ile)
c.877-1706C>T (n.877-1706C>T)
c.2957C>T (p.Thr986Ile)
c.3061-1706C>T (n.3061-1706C>T)
c.2678C>T (p.Thr893Ile)
c.2731-1706C>T (n.2731-1706C>T)
c.1760C>T (p.Thr587Ile)
n.3311C>T
13g.51944260G>CCA388030515ATP7Bc.*894-1706C>G (n.*894-1706C>G)
c.*1836C>G (n.*1836C>G)
c.2471C>G (p.Thr824Ser)
c.3092C>G (p.Thr1031Ser)
c.2759C>G (p.Thr920Ser)
c.2840C>G (p.Thr947Ser)
c.2858C>G (p.Thr953Ser)
n.3231C>G
n.3455C>G
c.2027C>G (p.Thr676Ser)
c.1802C>G (p.Thr601Ser)
c.2897C>G (p.Thr966Ser)
n.312C>G
c.1022-1706C>G
c.*193C>G (n.*193C>G)
n.3836C>G
n.2437C>G
c.2948C>G (p.Thr983Ser)
n.438C>G
c.2996C>G (p.Thr999Ser)
c.3056C>G (p.Thr1019Ser)
c.2606C>G (p.Thr869Ser)
c.908C>G (p.Thr303Ser)
c.877-1706C>G (n.877-1706C>G)
c.2957C>G (p.Thr986Ser)
c.3061-1706C>G (n.3061-1706C>G)
c.2678C>G (p.Thr893Ser)
c.2731-1706C>G (n.2731-1706C>G)
c.1760C>G (p.Thr587Ser)
n.3311C>G
13g.51944260G>TCA388030518ATP7Bc.*894-1706C>A (n.*894-1706C>A)
c.*1836C>A (n.*1836C>A)
c.2471C>A (p.Thr824Asn)
c.3092C>A (p.Thr1031Asn)
c.2759C>A (p.Thr920Asn)
c.2840C>A (p.Thr947Asn)
c.2858C>A (p.Thr953Asn)
n.3231C>A
n.3455C>A
c.2027C>A (p.Thr676Asn)
c.1802C>A (p.Thr601Asn)
c.2897C>A (p.Thr966Asn)
n.312C>A
c.1022-1706C>A
c.*193C>A (n.*193C>A)
n.3836C>A
n.2437C>A
c.2948C>A (p.Thr983Asn)
n.438C>A
c.2996C>A (p.Thr999Asn)
c.3056C>A (p.Thr1019Asn)
c.2606C>A (p.Thr869Asn)
c.908C>A (p.Thr303Asn)
c.877-1706C>A (n.877-1706C>A)
c.2957C>A (p.Thr986Asn)
c.3061-1706C>A (n.3061-1706C>A)
c.2678C>A (p.Thr893Asn)
c.2731-1706C>A (n.2731-1706C>A)
c.1760C>A (p.Thr587Asn)
n.3311C>A
13g.51944261T>ACA388030520ATP7Bc.*894-1707A>T (n.*894-1707A>T)
c.*1835A>T (n.*1835A>T)
c.2470A>T (p.Thr824Ser)
c.3091A>T (p.Thr1031Ser)
c.2758A>T (p.Thr920Ser)
c.2839A>T (p.Thr947Ser)
c.2857A>T (p.Thr953Ser)
n.3230A>T
n.3454A>T
c.2026A>T (p.Thr676Ser)
c.1801A>T (p.Thr601Ser)
c.2896A>T (p.Thr966Ser)
n.311A>T
c.1022-1707A>T
c.*192A>T (n.*192A>T)
n.3835A>T
n.2436A>T
c.2947A>T (p.Thr983Ser)
n.437A>T
c.2995A>T (p.Thr999Ser)
c.3055A>T (p.Thr1019Ser)
c.2605A>T (p.Thr869Ser)
c.907A>T (p.Thr303Ser)
c.877-1707A>T (n.877-1707A>T)
c.2956A>T (p.Thr986Ser)
c.3061-1707A>T (n.3061-1707A>T)
c.2677A>T (p.Thr893Ser)
c.2731-1707A>T (n.2731-1707A>T)
c.1759A>T (p.Thr587Ser)
n.3310A>T
13g.51944261T>CCA388030527ATP7Bc.*894-1707A>G (n.*894-1707A>G)
c.*1835A>G (n.*1835A>G)
c.2470A>G (p.Thr824Ala)
c.3091A>G (p.Thr1031Ala)
c.2758A>G (p.Thr920Ala)
c.2839A>G (p.Thr947Ala)
c.2857A>G (p.Thr953Ala)
n.3230A>G
n.3454A>G
c.2026A>G (p.Thr676Ala)
c.1801A>G (p.Thr601Ala)
c.2896A>G (p.Thr966Ala)
n.311A>G
c.1022-1707A>G
c.*192A>G (n.*192A>G)
n.3835A>G
n.2436A>G
c.2947A>G (p.Thr983Ala)
n.437A>G
c.2995A>G (p.Thr999Ala)
c.3055A>G (p.Thr1019Ala)
c.2605A>G (p.Thr869Ala)
c.907A>G (p.Thr303Ala)
c.877-1707A>G (n.877-1707A>G)
c.2956A>G (p.Thr986Ala)
c.3061-1707A>G (n.3061-1707A>G)
c.2677A>G (p.Thr893Ala)
c.2731-1707A>G (n.2731-1707A>G)
c.1759A>G (p.Thr587Ala)
n.3310A>G
13g.51944261T>GCA388030524ATP7Bc.*894-1707A>C (n.*894-1707A>C)
c.*1835A>C (n.*1835A>C)
c.2470A>C (p.Thr824Pro)
c.3091A>C (p.Thr1031Pro)
c.2758A>C (p.Thr920Pro)
c.2839A>C (p.Thr947Pro)
c.2857A>C (p.Thr953Pro)
n.3230A>C
n.3454A>C
c.2026A>C (p.Thr676Pro)
c.1801A>C (p.Thr601Pro)
c.2896A>C (p.Thr966Pro)
n.311A>C
c.1022-1707A>C
c.*192A>C (n.*192A>C)
n.3835A>C
n.2436A>C
c.2947A>C (p.Thr983Pro)
n.437A>C
c.2995A>C (p.Thr999Pro)
c.3055A>C (p.Thr1019Pro)
c.2605A>C (p.Thr869Pro)
c.907A>C (p.Thr303Pro)
c.877-1707A>C (n.877-1707A>C)
c.2956A>C (p.Thr986Pro)
c.3061-1707A>C (n.3061-1707A>C)
c.2677A>C (p.Thr893Pro)
c.2731-1707A>C (n.2731-1707A>C)
c.1759A>C (p.Thr587Pro)
n.3310A>C
13g.51944262G>ACA6988811ATP7Bc.*894-1708C>T (n.*894-1708C>T)
c.*1834C>T (n.*1834C>T)
c.2469C>T (p.Gly823=)
c.3090C>T (p.Gly1030=)
c.2757C>T (p.Gly919=)
c.2838C>T (p.Gly946=)
c.2856C>T (p.Gly952=)
n.3229C>T
n.3453C>T
c.2025C>T (p.Gly675=)
c.1800C>T (p.Gly600=)
c.2895C>T (p.Gly965=)
n.310C>T
c.1022-1708C>T
c.*191C>T (n.*191C>T)
n.3834C>T
n.2435C>T
c.2946C>T (p.Gly982=)
n.436C>T
c.2994C>T (p.Gly998=)
c.3054C>T (p.Gly1018=)
c.2604C>T (p.Gly868=)
c.906C>T (p.Gly302=)
c.877-1708C>T (n.877-1708C>T)
c.2955C>T (p.Gly985=)
c.3061-1708C>T (n.3061-1708C>T)
c.2676C>T (p.Gly892=)
c.2731-1708C>T (n.2731-1708C>T)
c.1758C>T (p.Gly586=)
n.3309C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944262G>CCA483894759ATP7Bc.*894-1708C>G (n.*894-1708C>G)
c.*1834C>G (n.*1834C>G)
c.2469C>G (p.Gly823=)
c.3090C>G (p.Gly1030=)
c.2757C>G (p.Gly919=)
c.2838C>G (p.Gly946=)
c.2856C>G (p.Gly952=)
n.3229C>G
n.3453C>G
c.2025C>G (p.Gly675=)
c.1800C>G (p.Gly600=)
c.2895C>G (p.Gly965=)
n.310C>G
c.1022-1708C>G
c.*191C>G (n.*191C>G)
n.3834C>G
n.2435C>G
c.2946C>G (p.Gly982=)
n.436C>G
c.2994C>G (p.Gly998=)
c.3054C>G (p.Gly1018=)
c.2604C>G (p.Gly868=)
c.906C>G (p.Gly302=)
c.877-1708C>G (n.877-1708C>G)
c.2955C>G (p.Gly985=)
c.3061-1708C>G (n.3061-1708C>G)
c.2676C>G (p.Gly892=)
c.2731-1708C>G (n.2731-1708C>G)
c.1758C>G (p.Gly586=)
n.3309C>G
13g.51944262G=CA2091564179ATP7Bc.*894-1708C= (n.*894-1708C=)
c.*1834C= (n.*1834C=)
c.2469C= (p.Gly823=)
c.3090C= (p.Gly1030=)
c.2757C= (p.Gly919=)
c.2838C= (p.Gly946=)
c.2856C= (p.Gly952=)
n.3229C=
n.3453C=
c.2025C= (p.Gly675=)
c.1800C= (p.Gly600=)
c.2895C= (p.Gly965=)
n.310C=
c.1022-1708C=
c.*191C= (n.*191C=)
n.3834C=
n.2435C=
c.2946C= (p.Gly982=)
n.436C=
c.2994C= (p.Gly998=)
c.3054C= (p.Gly1018=)
c.2604C= (p.Gly868=)
c.906C= (p.Gly302=)
c.877-1708C= (n.877-1708C=)
c.2955C= (p.Gly985=)
c.3061-1708C= (n.3061-1708C=)
c.2676C= (p.Gly892=)
c.2731-1708C= (n.2731-1708C=)
c.1758C= (p.Gly586=)
n.3309C=
13g.51944262G>TCA483894758ATP7Bc.*894-1708C>A (n.*894-1708C>A)
c.*1834C>A (n.*1834C>A)
c.2469C>A (p.Gly823=)
c.3090C>A (p.Gly1030=)
c.2757C>A (p.Gly919=)
c.2838C>A (p.Gly946=)
c.2856C>A (p.Gly952=)
n.3229C>A
n.3453C>A
c.2025C>A (p.Gly675=)
c.1800C>A (p.Gly600=)
c.2895C>A (p.Gly965=)
n.310C>A
c.1022-1708C>A
c.*191C>A (n.*191C>A)
n.3834C>A
n.2435C>A
c.2946C>A (p.Gly982=)
n.436C>A
c.2994C>A (p.Gly998=)
c.3054C>A (p.Gly1018=)
c.2604C>A (p.Gly868=)
c.906C>A (p.Gly302=)
c.877-1708C>A (n.877-1708C>A)
c.2955C>A (p.Gly985=)
c.3061-1708C>A (n.3061-1708C>A)
c.2676C>A (p.Gly892=)
c.2731-1708C>A (n.2731-1708C>A)
c.1758C>A (p.Gly586=)
n.3309C>A
13g.51944263C>ACA388030533ATP7Bc.*894-1709G>T (n.*894-1709G>T)
c.*1833G>T (n.*1833G>T)
c.2468G>T (p.Gly823Val)
c.3089G>T (p.Gly1030Val)
c.2756G>T (p.Gly919Val)
c.2837G>T (p.Gly946Val)
c.2855G>T (p.Gly952Val)
n.3228G>T
n.3452G>T
c.2024G>T (p.Gly675Val)
c.1799G>T (p.Gly600Val)
c.2894G>T (p.Gly965Val)
n.309G>T
c.1022-1709G>T
c.*190G>T (n.*190G>T)
n.3833G>T
n.2434G>T
c.2945G>T (p.Gly982Val)
n.435G>T
c.2993G>T (p.Gly998Val)
c.3053G>T (p.Gly1018Val)
c.2603G>T (p.Gly868Val)
c.905G>T (p.Gly302Val)
c.877-1709G>T (n.877-1709G>T)
c.2954G>T (p.Gly985Val)
c.3061-1709G>T (n.3061-1709G>T)
c.2675G>T (p.Gly892Val)
c.2731-1709G>T (n.2731-1709G>T)
c.1757G>T (p.Gly586Val)
n.3308G>T
 ClinVar
13g.51944263C>GCA388030528ATP7Bc.*894-1709G>C (n.*894-1709G>C)
c.*1833G>C (n.*1833G>C)
c.2468G>C (p.Gly823Ala)
c.3089G>C (p.Gly1030Ala)
c.2756G>C (p.Gly919Ala)
c.2837G>C (p.Gly946Ala)
c.2855G>C (p.Gly952Ala)
n.3228G>C
n.3452G>C
c.2024G>C (p.Gly675Ala)
c.1799G>C (p.Gly600Ala)
c.2894G>C (p.Gly965Ala)
n.309G>C
c.1022-1709G>C
c.*190G>C (n.*190G>C)
n.3833G>C
n.2434G>C
c.2945G>C (p.Gly982Ala)
n.435G>C
c.2993G>C (p.Gly998Ala)
c.3053G>C (p.Gly1018Ala)
c.2603G>C (p.Gly868Ala)
c.905G>C (p.Gly302Ala)
c.877-1709G>C (n.877-1709G>C)
c.2954G>C (p.Gly985Ala)
c.3061-1709G>C (n.3061-1709G>C)
c.2675G>C (p.Gly892Ala)
c.2731-1709G>C (n.2731-1709G>C)
c.1757G>C (p.Gly586Ala)
n.3308G>C
13g.51944263C>TCA388030529ATP7Bc.*894-1709G>A (n.*894-1709G>A)
c.*1833G>A (n.*1833G>A)
c.2468G>A (p.Gly823Asp)
c.3089G>A (p.Gly1030Asp)
c.2756G>A (p.Gly919Asp)
c.2837G>A (p.Gly946Asp)
c.2855G>A (p.Gly952Asp)
n.3228G>A
n.3452G>A
c.2024G>A (p.Gly675Asp)
c.1799G>A (p.Gly600Asp)
c.2894G>A (p.Gly965Asp)
n.309G>A
c.1022-1709G>A
c.*190G>A (n.*190G>A)
n.3833G>A
n.2434G>A
c.2945G>A (p.Gly982Asp)
n.435G>A
c.2993G>A (p.Gly998Asp)
c.3053G>A (p.Gly1018Asp)
c.2603G>A (p.Gly868Asp)
c.905G>A (p.Gly302Asp)
c.877-1709G>A (n.877-1709G>A)
c.2954G>A (p.Gly985Asp)
c.3061-1709G>A (n.3061-1709G>A)
c.2675G>A (p.Gly892Asp)
c.2731-1709G>A (n.2731-1709G>A)
c.1757G>A (p.Gly586Asp)
n.3308G>A
 ClinVar dbSNP
13g.51944264C>ACA388030543ATP7Bc.*894-1710G>T (n.*894-1710G>T)
c.*1832G>T (n.*1832G>T)
c.2467G>T (p.Gly823Cys)
c.3088G>T (p.Gly1030Cys)
c.2755G>T (p.Gly919Cys)
c.2836G>T (p.Gly946Cys)
c.2854G>T (p.Gly952Cys)
n.3227G>T
n.3451G>T
c.2023G>T (p.Gly675Cys)
c.1798G>T (p.Gly600Cys)
c.2893G>T (p.Gly965Cys)
n.308G>T
c.1022-1710G>T
c.*189G>T (n.*189G>T)
n.3832G>T
n.2433G>T
c.2944G>T (p.Gly982Cys)
n.434G>T
c.2992G>T (p.Gly998Cys)
c.3052G>T (p.Gly1018Cys)
c.2602G>T (p.Gly868Cys)
c.904G>T (p.Gly302Cys)
c.877-1710G>T (n.877-1710G>T)
c.2953G>T (p.Gly985Cys)
c.3061-1710G>T (n.3061-1710G>T)
c.2674G>T (p.Gly892Cys)
c.2731-1710G>T (n.2731-1710G>T)
c.1756G>T (p.Gly586Cys)
n.3307G>T
13g.51944264C=CA2091564186ATP7Bc.*894-1710G= (n.*894-1710G=)
c.*1832G= (n.*1832G=)
c.2467G= (p.Gly823=)
c.3088G= (p.Gly1030=)
c.2755G= (p.Gly919=)
c.2836G= (p.Gly946=)
c.2854G= (p.Gly952=)
n.3227G=
n.3451G=
c.2023G= (p.Gly675=)
c.1798G= (p.Gly600=)
c.2893G= (p.Gly965=)
n.308G=
c.1022-1710G=
c.*189G= (n.*189G=)
n.3832G=
n.2433G=
c.2944G= (p.Gly982=)
n.434G=
c.2992G= (p.Gly998=)
c.3052G= (p.Gly1018=)
c.2602G= (p.Gly868=)
c.904G= (p.Gly302=)
c.877-1710G= (n.877-1710G=)
c.2953G= (p.Gly985=)
c.3061-1710G= (n.3061-1710G=)
c.2674G= (p.Gly892=)
c.2731-1710G= (n.2731-1710G=)
c.1756G= (p.Gly586=)
n.3307G=
13g.51944264C>GCA388030547ATP7Bc.*894-1710G>C (n.*894-1710G>C)
c.*1832G>C (n.*1832G>C)
c.2467G>C (p.Gly823Arg)
c.3088G>C (p.Gly1030Arg)
c.2755G>C (p.Gly919Arg)
c.2836G>C (p.Gly946Arg)
c.2854G>C (p.Gly952Arg)
n.3227G>C
n.3451G>C
c.2023G>C (p.Gly675Arg)
c.1798G>C (p.Gly600Arg)
c.2893G>C (p.Gly965Arg)
n.308G>C
c.1022-1710G>C
c.*189G>C (n.*189G>C)
n.3832G>C
n.2433G>C
c.2944G>C (p.Gly982Arg)
n.434G>C
c.2992G>C (p.Gly998Arg)
c.3052G>C (p.Gly1018Arg)
c.2602G>C (p.Gly868Arg)
c.904G>C (p.Gly302Arg)
c.877-1710G>C (n.877-1710G>C)
c.2953G>C (p.Gly985Arg)
c.3061-1710G>C (n.3061-1710G>C)
c.2674G>C (p.Gly892Arg)
c.2731-1710G>C (n.2731-1710G>C)
c.1756G>C (p.Gly586Arg)
n.3307G>C
13g.51944264C>TCA388030552ATP7Bc.*894-1710G>A (n.*894-1710G>A)
c.*1832G>A (n.*1832G>A)
c.2467G>A (p.Gly823Ser)
c.3088G>A (p.Gly1030Ser)
c.2755G>A (p.Gly919Ser)
c.2836G>A (p.Gly946Ser)
c.2854G>A (p.Gly952Ser)
n.3227G>A
n.3451G>A
c.2023G>A (p.Gly675Ser)
c.1798G>A (p.Gly600Ser)
c.2893G>A (p.Gly965Ser)
n.308G>A
c.1022-1710G>A
c.*189G>A (n.*189G>A)
n.3832G>A
n.2433G>A
c.2944G>A (p.Gly982Ser)
n.434G>A
c.2992G>A (p.Gly998Ser)
c.3052G>A (p.Gly1018Ser)
c.2602G>A (p.Gly868Ser)
c.904G>A (p.Gly302Ser)
c.877-1710G>A (n.877-1710G>A)
c.2953G>A (p.Gly985Ser)
c.3061-1710G>A (n.3061-1710G>A)
c.2674G>A (p.Gly892Ser)
c.2731-1710G>A (n.2731-1710G>A)
c.1756G>A (p.Gly586Ser)
n.3307G>A
 ClinVar dbSNP gnomAD v4
13g.51944265delCA2695218753ATP7Bc.*894-1711del (n.*894-1711del)
c.*1831del (n.*1831del)
c.2466del (p.Gly823AlafsTer?)
c.3087del (p.Gly1030AlafsTer?)
c.2754del (p.Gly919AlafsTer?)
c.2835del (p.Gly946AlafsTer?)
c.2853del (p.Gly952AlafsTer?)
n.3226del
n.3450del
c.2022del (p.Gly675AlafsTer?)
c.1797del (p.Gly600AlafsTer?)
c.2892del (p.Gly965AlafsTer?)
n.307del
c.1022-1711del
c.*188del (n.*188del)
n.3831del
n.2432del
c.2943del (p.Gly982AlafsTer?)
n.433del
c.2991del (p.Gly998AlafsTer?)
c.3051del (p.Gly1018AlafsTer?)
c.2601del (p.Gly868AlafsTer?)
c.903del (p.Gly302AlafsTer?)
c.877-1711del (n.877-1711del)
c.2952del (p.Gly985AlafsTer?)
c.3061-1711del (n.3061-1711del)
c.2673del (p.Gly892AlafsTer?)
c.2731-1711del (n.2731-1711del)
c.1755del (p.Gly586AlafsTer?)
n.3306del
13g.51944265A>CCA483894760ATP7Bc.*894-1711T>G (n.*894-1711T>G)
c.*1831T>G (n.*1831T>G)
c.2466T>G (p.Thr822=)
c.3087T>G (p.Thr1029=)
c.2754T>G (p.Thr918=)
c.2835T>G (p.Thr945=)
c.2853T>G (p.Thr951=)
n.3226T>G
n.3450T>G
c.2022T>G (p.Thr674=)
c.1797T>G (p.Thr599=)
c.2892T>G (p.Thr964=)
n.307T>G
c.1022-1711T>G
c.*188T>G (n.*188T>G)
n.3831T>G
n.2432T>G
c.2943T>G (p.Thr981=)
n.433T>G
c.2991T>G (p.Thr997=)
c.3051T>G (p.Thr1017=)
c.2601T>G (p.Thr867=)
c.903T>G (p.Thr301=)
c.877-1711T>G (n.877-1711T>G)
c.2952T>G (p.Thr984=)
c.3061-1711T>G (n.3061-1711T>G)
c.2673T>G (p.Thr891=)
c.2731-1711T>G (n.2731-1711T>G)
c.1755T>G (p.Thr585=)
n.3306T>G
13g.51944265A>GCA483894761ATP7Bc.*894-1711T>C (n.*894-1711T>C)
c.*1831T>C (n.*1831T>C)
c.2466T>C (p.Thr822=)
c.3087T>C (p.Thr1029=)
c.2754T>C (p.Thr918=)
c.2835T>C (p.Thr945=)
c.2853T>C (p.Thr951=)
n.3226T>C
n.3450T>C
c.2022T>C (p.Thr674=)
c.1797T>C (p.Thr599=)
c.2892T>C (p.Thr964=)
n.307T>C
c.1022-1711T>C
c.*188T>C (n.*188T>C)
n.3831T>C
n.2432T>C
c.2943T>C (p.Thr981=)
n.433T>C
c.2991T>C (p.Thr997=)
c.3051T>C (p.Thr1017=)
c.2601T>C (p.Thr867=)
c.903T>C (p.Thr301=)
c.877-1711T>C (n.877-1711T>C)
c.2952T>C (p.Thr984=)
c.3061-1711T>C (n.3061-1711T>C)
c.2673T>C (p.Thr891=)
c.2731-1711T>C (n.2731-1711T>C)
c.1755T>C (p.Thr585=)
n.3306T>C
13g.51944265A>TCA483894762ATP7Bc.*894-1711T>A (n.*894-1711T>A)
c.*1831T>A (n.*1831T>A)
c.2466T>A (p.Thr822=)
c.3087T>A (p.Thr1029=)
c.2754T>A (p.Thr918=)
c.2835T>A (p.Thr945=)
c.2853T>A (p.Thr951=)
n.3226T>A
n.3450T>A
c.2022T>A (p.Thr674=)
c.1797T>A (p.Thr599=)
c.2892T>A (p.Thr964=)
n.307T>A
c.1022-1711T>A
c.*188T>A (n.*188T>A)
n.3831T>A
n.2432T>A
c.2943T>A (p.Thr981=)
n.433T>A
c.2991T>A (p.Thr997=)
c.3051T>A (p.Thr1017=)
c.2601T>A (p.Thr867=)
c.903T>A (p.Thr301=)
c.877-1711T>A (n.877-1711T>A)
c.2952T>A (p.Thr984=)
c.3061-1711T>A (n.3061-1711T>A)
c.2673T>A (p.Thr891=)
c.2731-1711T>A (n.2731-1711T>A)
c.1755T>A (p.Thr585=)
n.3306T>A
13g.51944265dupCA2695218752ATP7Bc.*894-1711dup (n.*894-1711dup)
c.*1831dup (n.*1831dup)
c.2466dup (p.Gly823TrpfsTer?)
c.3087dup (p.Gly1030TrpfsTer?)
c.2754dup (p.Gly919TrpfsTer?)
c.2835dup (p.Gly946TrpfsTer?)
c.2853dup (p.Gly952TrpfsTer?)
n.3226dup
n.3450dup
c.2022dup (p.Gly675TrpfsTer?)
c.1797dup (p.Gly600TrpfsTer?)
c.2892dup (p.Gly965TrpfsTer?)
n.307dup
c.1022-1711dup
c.*188dup (n.*188dup)
n.3831dup
n.2432dup
c.2943dup (p.Gly982TrpfsTer?)
n.433dup
c.2991dup (p.Gly998TrpfsTer?)
c.3051dup (p.Gly1018TrpfsTer?)
c.2601dup (p.Gly868TrpfsTer?)
c.903dup (p.Gly302TrpfsTer?)
c.877-1711dup (n.877-1711dup)
c.2952dup (p.Gly985TrpfsTer?)
c.3061-1711dup (n.3061-1711dup)
c.2673dup (p.Gly892TrpfsTer?)
c.2731-1711dup (n.2731-1711dup)
c.1755dup (p.Gly586TrpfsTer?)
n.3306dup
13g.51944266G>ACA388030555ATP7Bc.*894-1712C>T (n.*894-1712C>T)
c.*1830C>T (n.*1830C>T)
c.2465C>T (p.Thr822Ile)
c.3086C>T (p.Thr1029Ile)
c.2753C>T (p.Thr918Ile)
c.2834C>T (p.Thr945Ile)
c.2852C>T (p.Thr951Ile)
n.3225C>T
n.3449C>T
c.2021C>T (p.Thr674Ile)
c.1796C>T (p.Thr599Ile)
c.2891C>T (p.Thr964Ile)
n.306C>T
c.1022-1712C>T
c.*187C>T (n.*187C>T)
n.3830C>T
n.2431C>T
c.2942C>T (p.Thr981Ile)
n.432C>T
c.2990C>T (p.Thr997Ile)
c.3050C>T (p.Thr1017Ile)
c.2600C>T (p.Thr867Ile)
c.902C>T (p.Thr301Ile)
c.877-1712C>T (n.877-1712C>T)
c.2951C>T (p.Thr984Ile)
c.3061-1712C>T (n.3061-1712C>T)
c.2672C>T (p.Thr891Ile)
c.2731-1712C>T (n.2731-1712C>T)
c.1754C>T (p.Thr585Ile)
n.3305C>T
 ClinVar dbSNP gnomAD v4
13g.51944266G>CCA388030559ATP7Bc.*894-1712C>G (n.*894-1712C>G)
c.*1830C>G (n.*1830C>G)
c.2465C>G (p.Thr822Ser)
c.3086C>G (p.Thr1029Ser)
c.2753C>G (p.Thr918Ser)
c.2834C>G (p.Thr945Ser)
c.2852C>G (p.Thr951Ser)
n.3225C>G
n.3449C>G
c.2021C>G (p.Thr674Ser)
c.1796C>G (p.Thr599Ser)
c.2891C>G (p.Thr964Ser)
n.306C>G
c.1022-1712C>G
c.*187C>G (n.*187C>G)
n.3830C>G
n.2431C>G
c.2942C>G (p.Thr981Ser)
n.432C>G
c.2990C>G (p.Thr997Ser)
c.3050C>G (p.Thr1017Ser)
c.2600C>G (p.Thr867Ser)
c.902C>G (p.Thr301Ser)
c.877-1712C>G (n.877-1712C>G)
c.2951C>G (p.Thr984Ser)
c.3061-1712C>G (n.3061-1712C>G)
c.2672C>G (p.Thr891Ser)
c.2731-1712C>G (n.2731-1712C>G)
c.1754C>G (p.Thr585Ser)
n.3305C>G
13g.51944266G=CA2091564198ATP7Bc.*894-1712C= (n.*894-1712C=)
c.*1830C= (n.*1830C=)
c.2465C= (p.Thr822=)
c.3086C= (p.Thr1029=)
c.2753C= (p.Thr918=)
c.2834C= (p.Thr945=)
c.2852C= (p.Thr951=)
n.3225C=
n.3449C=
c.2021C= (p.Thr674=)
c.1796C= (p.Thr599=)
c.2891C= (p.Thr964=)
n.306C=
c.1022-1712C=
c.*187C= (n.*187C=)
n.3830C=
n.2431C=
c.2942C= (p.Thr981=)
n.432C=
c.2990C= (p.Thr997=)
c.3050C= (p.Thr1017=)
c.2600C= (p.Thr867=)
c.902C= (p.Thr301=)
c.877-1712C= (n.877-1712C=)
c.2951C= (p.Thr984=)
c.3061-1712C= (n.3061-1712C=)
c.2672C= (p.Thr891=)
c.2731-1712C= (n.2731-1712C=)
c.1754C= (p.Thr585=)
n.3305C=
13g.51944266G>TCA388030581ATP7Bc.*894-1712C>A (n.*894-1712C>A)
c.*1830C>A (n.*1830C>A)
c.2465C>A (p.Thr822Asn)
c.3086C>A (p.Thr1029Asn)
c.2753C>A (p.Thr918Asn)
c.2834C>A (p.Thr945Asn)
c.2852C>A (p.Thr951Asn)
n.3225C>A
n.3449C>A
c.2021C>A (p.Thr674Asn)
c.1796C>A (p.Thr599Asn)
c.2891C>A (p.Thr964Asn)
n.306C>A
c.1022-1712C>A
c.*187C>A (n.*187C>A)
n.3830C>A
n.2431C>A
c.2942C>A (p.Thr981Asn)
n.432C>A
c.2990C>A (p.Thr997Asn)
c.3050C>A (p.Thr1017Asn)
c.2600C>A (p.Thr867Asn)
c.902C>A (p.Thr301Asn)
c.877-1712C>A (n.877-1712C>A)
c.2951C>A (p.Thr984Asn)
c.3061-1712C>A (n.3061-1712C>A)
c.2672C>A (p.Thr891Asn)
c.2731-1712C>A (n.2731-1712C>A)
c.1754C>A (p.Thr585Asn)
n.3305C>A
13g.51944266_51944267delCA2695218754ATP7Bc.*894-1713_*894-1712del (n.*894-1713_*894-1712del)
c.*1829_*1830del (n.*1829_*1830del)
c.2464_2465del (p.Thr822TrpfsTer?)
c.3085_3086del (p.Thr1029TrpfsTer?)
c.2752_2753del (p.Thr918TrpfsTer?)
c.2833_2834del (p.Thr945TrpfsTer?)
c.2851_2852del (p.Thr951TrpfsTer?)
n.3224_3225del
n.3448_3449del
c.2020_2021del (p.Thr674TrpfsTer?)
c.1795_1796del (p.Thr599TrpfsTer?)
c.2890_2891del (p.Thr964TrpfsTer?)
n.305_306del
c.1022-1713_1022-1712del
c.*186_*187del (n.*186_*187del)
n.3829_3830del
n.2430_2431del
c.2941_2942del (p.Thr981TrpfsTer?)
n.431_432del
c.2989_2990del (p.Thr997TrpfsTer?)
c.3049_3050del (p.Thr1017TrpfsTer?)
c.2599_2600del (p.Thr867TrpfsTer?)
c.901_902del (p.Thr301TrpfsTer?)
c.877-1713_877-1712del (n.877-1713_877-1712del)
c.2950_2951del (p.Thr984TrpfsTer?)
c.3061-1713_3061-1712del (n.3061-1713_3061-1712del)
c.2671_2672del (p.Thr891TrpfsTer?)
c.2731-1713_2731-1712del (n.2731-1713_2731-1712del)
c.1753_1754del (p.Thr585TrpfsTer?)
n.3304_3305del
13g.51944266_51944269delinsGTCTCA2091564197ATP7Bc.*894-1715_*894-1712delinsAGAC (n.*894-1715_*894-1712delinsAGAC)
c.*1827_*1830delinsAGAC (n.*1827_*1830delinsAGAC)
c.2462_2465delinsAGAC (p.Lys821=)
c.3083_3086delinsAGAC (p.Lys1028=)
c.2750_2753delinsAGAC (p.Lys917=)
c.2831_2834delinsAGAC (p.Lys944=)
c.2849_2852delinsAGAC (p.Lys950=)
n.3222_3225delinsAGAC
n.3446_3449delinsAGAC
c.2018_2021delinsAGAC (p.Lys673=)
c.1793_1796delinsAGAC (p.Lys598=)
c.2888_2891delinsAGAC (p.Lys963=)
n.303_306delinsAGAC
c.1022-1715_1022-1712delinsAGAC
c.*184_*187delinsAGAC (n.*184_*187delinsAGAC)
n.3827_3830delinsAGAC
n.2428_2431delinsAGAC
c.2939_2942delinsAGAC (p.Lys980=)
n.429_432delinsAGAC
c.2987_2990delinsAGAC (p.Lys996=)
c.3047_3050delinsAGAC (p.Lys1016=)
c.2597_2600delinsAGAC (p.Lys866=)
c.899_902delinsAGAC (p.Lys300=)
c.877-1715_877-1712delinsAGAC (n.877-1715_877-1712delinsAGAC)
c.2948_2951delinsAGAC (p.Lys983=)
c.3061-1715_3061-1712delinsAGAC (n.3061-1715_3061-1712delinsAGAC)
c.2669_2672delinsAGAC (p.Lys890=)
c.2731-1715_2731-1712delinsAGAC (n.2731-1715_2731-1712delinsAGAC)
c.1751_1754delinsAGAC (p.Lys584=)
n.3302_3305delinsAGAC
13g.51944267delCA2623116464ATP7Bc.*894-1713del (n.*894-1713del)
c.*1829del (n.*1829del)
c.2464del (p.Thr822LeufsTer?)
c.3085del (p.Thr1029LeufsTer?)
c.2752del (p.Thr918LeufsTer?)
c.2833del (p.Thr945LeufsTer?)
c.2851del (p.Thr951LeufsTer?)
n.3224del
n.3448del
c.2020del (p.Thr674LeufsTer?)
c.1795del (p.Thr599LeufsTer?)
c.2890del (p.Thr964LeufsTer?)
n.305del
c.1022-1713del
c.*186del (n.*186del)
n.3829del
n.2430del
c.2941del (p.Thr981LeufsTer?)
n.431del
c.2989del (p.Thr997LeufsTer?)
c.3049del (p.Thr1017LeufsTer?)
c.2599del (p.Thr867LeufsTer?)
c.901del (p.Thr301LeufsTer?)
c.877-1713del (n.877-1713del)
c.2950del (p.Thr984LeufsTer?)
c.3061-1713del (n.3061-1713del)
c.2671del (p.Thr891LeufsTer?)
c.2731-1713del (n.2731-1713del)
c.1753del (p.Thr585LeufsTer?)
n.3304del
 gnomAD v4
13g.51944267T>ACA388030587ATP7Bc.*894-1713A>T (n.*894-1713A>T)
c.*1829A>T (n.*1829A>T)
c.2464A>T (p.Thr822Ser)
c.3085A>T (p.Thr1029Ser)
c.2752A>T (p.Thr918Ser)
c.2833A>T (p.Thr945Ser)
c.2851A>T (p.Thr951Ser)
n.3224A>T
n.3448A>T
c.2020A>T (p.Thr674Ser)
c.1795A>T (p.Thr599Ser)
c.2890A>T (p.Thr964Ser)
n.305A>T
c.1022-1713A>T
c.*186A>T (n.*186A>T)
n.3829A>T
n.2430A>T
c.2941A>T (p.Thr981Ser)
n.431A>T
c.2989A>T (p.Thr997Ser)
c.3049A>T (p.Thr1017Ser)
c.2599A>T (p.Thr867Ser)
c.901A>T (p.Thr301Ser)
c.877-1713A>T (n.877-1713A>T)
c.2950A>T (p.Thr984Ser)
c.3061-1713A>T (n.3061-1713A>T)
c.2671A>T (p.Thr891Ser)
c.2731-1713A>T (n.2731-1713A>T)
c.1753A>T (p.Thr585Ser)
n.3304A>T
13g.51944267T>CCA388030592ATP7Bc.*894-1713A>G (n.*894-1713A>G)
c.*1829A>G (n.*1829A>G)
c.2464A>G (p.Thr822Ala)
c.3085A>G (p.Thr1029Ala)
c.2752A>G (p.Thr918Ala)
c.2833A>G (p.Thr945Ala)
c.2851A>G (p.Thr951Ala)
n.3224A>G
n.3448A>G
c.2020A>G (p.Thr674Ala)
c.1795A>G (p.Thr599Ala)
c.2890A>G (p.Thr964Ala)
n.305A>G
c.1022-1713A>G
c.*186A>G (n.*186A>G)
n.3829A>G
n.2430A>G
c.2941A>G (p.Thr981Ala)
n.431A>G
c.2989A>G (p.Thr997Ala)
c.3049A>G (p.Thr1017Ala)
c.2599A>G (p.Thr867Ala)
c.901A>G (p.Thr301Ala)
c.877-1713A>G (n.877-1713A>G)
c.2950A>G (p.Thr984Ala)
c.3061-1713A>G (n.3061-1713A>G)
c.2671A>G (p.Thr891Ala)
c.2731-1713A>G (n.2731-1713A>G)
c.1753A>G (p.Thr585Ala)
n.3304A>G
13g.51944267T>GCA388030595ATP7Bc.*894-1713A>C (n.*894-1713A>C)
c.*1829A>C (n.*1829A>C)
c.2464A>C (p.Thr822Pro)
c.3085A>C (p.Thr1029Pro)
c.2752A>C (p.Thr918Pro)
c.2833A>C (p.Thr945Pro)
c.2851A>C (p.Thr951Pro)
n.3224A>C
n.3448A>C
c.2020A>C (p.Thr674Pro)
c.1795A>C (p.Thr599Pro)
c.2890A>C (p.Thr964Pro)
n.305A>C
c.1022-1713A>C
c.*186A>C (n.*186A>C)
n.3829A>C
n.2430A>C
c.2941A>C (p.Thr981Pro)
n.431A>C
c.2989A>C (p.Thr997Pro)
c.3049A>C (p.Thr1017Pro)
c.2599A>C (p.Thr867Pro)
c.901A>C (p.Thr301Pro)
c.877-1713A>C (n.877-1713A>C)
c.2950A>C (p.Thr984Pro)
c.3061-1713A>C (n.3061-1713A>C)
c.2671A>C (p.Thr891Pro)
c.2731-1713A>C (n.2731-1713A>C)
c.1753A>C (p.Thr585Pro)
n.3304A>C
13g.51944267_51944269delinsCCA913190609ATP7Bc.*894-1715_*894-1713delinsG (n.*894-1715_*894-1713delinsG)
c.*1827_*1829delinsG (n.*1827_*1829delinsG)
c.2462_2464delinsG (p.Lys821SerfsTer?)
c.3083_3085delinsG (p.Lys1028SerfsTer?)
c.2750_2752delinsG (p.Lys917SerfsTer?)
c.2831_2833delinsG (p.Lys944SerfsTer?)
c.2849_2851delinsG (p.Lys950SerfsTer?)
n.3222_3224delinsG
n.3446_3448delinsG
c.2018_2020delinsG (p.Lys673SerfsTer?)
c.1793_1795delinsG (p.Lys598SerfsTer?)
c.2888_2890delinsG (p.Lys963SerfsTer?)
n.303_305delinsG
c.1022-1715_1022-1713delinsG
c.*184_*186delinsG (n.*184_*186delinsG)
n.3827_3829delinsG
n.2428_2430delinsG
c.2939_2941delinsG (p.Lys980SerfsTer?)
n.429_431delinsG
c.2987_2989delinsG (p.Lys996SerfsTer?)
c.3047_3049delinsG (p.Lys1016SerfsTer?)
c.2597_2599delinsG (p.Lys866SerfsTer?)
c.899_901delinsG (p.Lys300SerfsTer?)
c.877-1715_877-1713delinsG (n.877-1715_877-1713delinsG)
c.2948_2950delinsG (p.Lys983SerfsTer?)
c.3061-1715_3061-1713delinsG (n.3061-1715_3061-1713delinsG)
c.2669_2671delinsG (p.Lys890SerfsTer?)
c.2731-1715_2731-1713delinsG (n.2731-1715_2731-1713delinsG)
c.1751_1753delinsG (p.Lys584SerfsTer?)
n.3302_3304delinsG
 ClinVar dbSNP
13g.51944267_51944269delinsGCA2499222492ATP7Bc.*894-1715_*894-1713delinsC (n.*894-1715_*894-1713delinsC)
c.*1827_*1829delinsC (n.*1827_*1829delinsC)
c.2462_2464delinsC (p.Lys821ThrfsTer?)
c.3083_3085delinsC (p.Lys1028ThrfsTer?)
c.2750_2752delinsC (p.Lys917ThrfsTer?)
c.2831_2833delinsC (p.Lys944ThrfsTer?)
c.2849_2851delinsC (p.Lys950ThrfsTer?)
n.3222_3224delinsC
n.3446_3448delinsC
c.2018_2020delinsC (p.Lys673ThrfsTer?)
c.1793_1795delinsC (p.Lys598ThrfsTer?)
c.2888_2890delinsC (p.Lys963ThrfsTer?)
n.303_305delinsC
c.1022-1715_1022-1713delinsC
c.*184_*186delinsC (n.*184_*186delinsC)
n.3827_3829delinsC
n.2428_2430delinsC
c.2939_2941delinsC (p.Lys980ThrfsTer?)
n.429_431delinsC
c.2987_2989delinsC (p.Lys996ThrfsTer?)
c.3047_3049delinsC (p.Lys1016ThrfsTer?)
c.2597_2599delinsC (p.Lys866ThrfsTer?)
c.899_901delinsC (p.Lys300ThrfsTer?)
c.877-1715_877-1713delinsC (n.877-1715_877-1713delinsC)
c.2948_2950delinsC (p.Lys983ThrfsTer?)
c.3061-1715_3061-1713delinsC (n.3061-1715_3061-1713delinsC)
c.2669_2671delinsC (p.Lys890ThrfsTer?)
c.2731-1715_2731-1713delinsC (n.2731-1715_2731-1713delinsC)
c.1751_1753delinsC (p.Lys584ThrfsTer?)
n.3302_3304delinsC
 ClinVar dbSNP
13g.51944268_51944269delCA698885556ATP7Bc.*894-1714_*894-1713del (n.*894-1714_*894-1713del)
c.*1828_*1829del (n.*1828_*1829del)
c.2463_2464del (p.Lys821AsnfsTer?)
c.3084_3085del (p.Lys1028AsnfsTer?)
c.2751_2752del (p.Lys917AsnfsTer?)
c.2832_2833del (p.Lys944AsnfsTer?)
c.2850_2851del (p.Lys950AsnfsTer?)
n.3223_3224del
n.3447_3448del
c.2019_2020del (p.Lys673AsnfsTer?)
c.1794_1795del (p.Lys598AsnfsTer?)
c.2889_2890del (p.Lys963AsnfsTer?)
n.304_305del
c.1022-1714_1022-1713del
c.*185_*186del (n.*185_*186del)
n.3828_3829del
n.2429_2430del
c.2940_2941del (p.Lys980AsnfsTer?)
n.430_431del
c.2988_2989del (p.Lys996AsnfsTer?)
c.3048_3049del (p.Lys1016AsnfsTer?)
c.2598_2599del (p.Lys866AsnfsTer?)
c.900_901del (p.Lys300AsnfsTer?)
c.877-1714_877-1713del (n.877-1714_877-1713del)
c.2949_2950del (p.Lys983AsnfsTer?)
c.3061-1714_3061-1713del (n.3061-1714_3061-1713del)
c.2670_2671del (p.Lys890AsnfsTer?)
c.2731-1714_2731-1713del (n.2731-1714_2731-1713del)
c.1752_1753del (p.Lys584AsnfsTer?)
n.3303_3304del
 dbSNP
13g.51944267_51944270delinsCGCA2695218755ATP7Bc.*894-1716_*894-1713delinsCG (n.*894-1716_*894-1713delinsCG)
c.*1826_*1829delinsCG (n.*1826_*1829delinsCG)
c.2461_2464delinsCG (p.Lys821ArgfsTer?)
c.3082_3085delinsCG (p.Lys1028ArgfsTer?)
c.2749_2752delinsCG (p.Lys917ArgfsTer?)
c.2830_2833delinsCG (p.Lys944ArgfsTer?)
c.2848_2851delinsCG (p.Lys950ArgfsTer?)
n.3221_3224delinsCG
n.3445_3448delinsCG
c.2017_2020delinsCG (p.Lys673ArgfsTer?)
c.1792_1795delinsCG (p.Lys598ArgfsTer?)
c.2887_2890delinsCG (p.Lys963ArgfsTer?)
n.302_305delinsCG
c.1022-1716_1022-1713delinsCG
c.*183_*186delinsCG (n.*183_*186delinsCG)
n.3826_3829delinsCG
n.2427_2430delinsCG
c.2938_2941delinsCG (p.Lys980ArgfsTer?)
n.428_431delinsCG
c.2986_2989delinsCG (p.Lys996ArgfsTer?)
c.3046_3049delinsCG (p.Lys1016ArgfsTer?)
c.2596_2599delinsCG (p.Lys866ArgfsTer?)
c.898_901delinsCG (p.Lys300ArgfsTer?)
c.877-1716_877-1713delinsCG (n.877-1716_877-1713delinsCG)
c.2947_2950delinsCG (p.Lys983ArgfsTer?)
c.3061-1716_3061-1713delinsCG (n.3061-1716_3061-1713delinsCG)
c.2668_2671delinsCG (p.Lys890ArgfsTer?)
c.2731-1716_2731-1713delinsCG (n.2731-1716_2731-1713delinsCG)
c.1750_1753delinsCG (p.Lys584ArgfsTer?)
n.3301_3304delinsCG
13g.51944268C>ACA388030600ATP7Bc.*894-1714G>T (n.*894-1714G>T)
c.*1828G>T (n.*1828G>T)
c.2463G>T (p.Lys821Asn)
c.3084G>T (p.Lys1028Asn)
c.2751G>T (p.Lys917Asn)
c.2832G>T (p.Lys944Asn)
c.2850G>T (p.Lys950Asn)
n.3223G>T
n.3447G>T
c.2019G>T (p.Lys673Asn)
c.1794G>T (p.Lys598Asn)
c.2889G>T (p.Lys963Asn)
n.304G>T
c.1022-1714G>T
c.*185G>T (n.*185G>T)
n.3828G>T
n.2429G>T
c.2940G>T (p.Lys980Asn)
n.430G>T
c.2988G>T (p.Lys996Asn)
c.3048G>T (p.Lys1016Asn)
c.2598G>T (p.Lys866Asn)
c.900G>T (p.Lys300Asn)
c.877-1714G>T (n.877-1714G>T)
c.2949G>T (p.Lys983Asn)
c.3061-1714G>T (n.3061-1714G>T)
c.2670G>T (p.Lys890Asn)
c.2731-1714G>T (n.2731-1714G>T)
c.1752G>T (p.Lys584Asn)
n.3303G>T
13g.51944268C>GCA388030609ATP7Bc.*894-1714G>C (n.*894-1714G>C)
c.*1828G>C (n.*1828G>C)
c.2463G>C (p.Lys821Asn)
c.3084G>C (p.Lys1028Asn)
c.2751G>C (p.Lys917Asn)
c.2832G>C (p.Lys944Asn)
c.2850G>C (p.Lys950Asn)
n.3223G>C
n.3447G>C
c.2019G>C (p.Lys673Asn)
c.1794G>C (p.Lys598Asn)
c.2889G>C (p.Lys963Asn)
n.304G>C
c.1022-1714G>C
c.*185G>C (n.*185G>C)
n.3828G>C
n.2429G>C
c.2940G>C (p.Lys980Asn)
n.430G>C
c.2988G>C (p.Lys996Asn)
c.3048G>C (p.Lys1016Asn)
c.2598G>C (p.Lys866Asn)
c.900G>C (p.Lys300Asn)
c.877-1714G>C (n.877-1714G>C)
c.2949G>C (p.Lys983Asn)
c.3061-1714G>C (n.3061-1714G>C)
c.2670G>C (p.Lys890Asn)
c.2731-1714G>C (n.2731-1714G>C)
c.1752G>C (p.Lys584Asn)
n.3303G>C
13g.51944268C>TCA483894763ATP7Bc.*894-1714G>A (n.*894-1714G>A)
c.*1828G>A (n.*1828G>A)
c.2463G>A (p.Lys821=)
c.3084G>A (p.Lys1028=)
c.2751G>A (p.Lys917=)
c.2832G>A (p.Lys944=)
c.2850G>A (p.Lys950=)
n.3223G>A
n.3447G>A
c.2019G>A (p.Lys673=)
c.1794G>A (p.Lys598=)
c.2889G>A (p.Lys963=)
n.304G>A
c.1022-1714G>A
c.*185G>A (n.*185G>A)
n.3828G>A
n.2429G>A
c.2940G>A (p.Lys980=)
n.430G>A
c.2988G>A (p.Lys996=)
c.3048G>A (p.Lys1016=)
c.2598G>A (p.Lys866=)
c.900G>A (p.Lys300=)
c.877-1714G>A (n.877-1714G>A)
c.2949G>A (p.Lys983=)
c.3061-1714G>A (n.3061-1714G>A)
c.2670G>A (p.Lys890=)
c.2731-1714G>A (n.2731-1714G>A)
c.1752G>A (p.Lys584=)
n.3303G>A
13g.51944269T>ACA388030615ATP7Bc.*894-1715A>T (n.*894-1715A>T)
c.*1827A>T (n.*1827A>T)
c.2462A>T (p.Lys821Met)
c.3083A>T (p.Lys1028Met)
c.2750A>T (p.Lys917Met)
c.2831A>T (p.Lys944Met)
c.2849A>T (p.Lys950Met)
n.3222A>T
n.3446A>T
c.2018A>T (p.Lys673Met)
c.1793A>T (p.Lys598Met)
c.2888A>T (p.Lys963Met)
n.303A>T
c.1022-1715A>T
c.*184A>T (n.*184A>T)
n.3827A>T
n.2428A>T
c.2939A>T (p.Lys980Met)
n.429A>T
c.2987A>T (p.Lys996Met)
c.3047A>T (p.Lys1016Met)
c.2597A>T (p.Lys866Met)
c.899A>T (p.Lys300Met)
c.877-1715A>T (n.877-1715A>T)
c.2948A>T (p.Lys983Met)
c.3061-1715A>T (n.3061-1715A>T)
c.2669A>T (p.Lys890Met)
c.2731-1715A>T (n.2731-1715A>T)
c.1751A>T (p.Lys584Met)
n.3302A>T
13g.51944269T>CCA388030617ATP7Bc.*894-1715A>G (n.*894-1715A>G)
c.*1827A>G (n.*1827A>G)
c.2462A>G (p.Lys821Arg)
c.3083A>G (p.Lys1028Arg)
c.2750A>G (p.Lys917Arg)
c.2831A>G (p.Lys944Arg)
c.2849A>G (p.Lys950Arg)
n.3222A>G
n.3446A>G
c.2018A>G (p.Lys673Arg)
c.1793A>G (p.Lys598Arg)
c.2888A>G (p.Lys963Arg)
n.303A>G
c.1022-1715A>G
c.*184A>G (n.*184A>G)
n.3827A>G
n.2428A>G
c.2939A>G (p.Lys980Arg)
n.429A>G
c.2987A>G (p.Lys996Arg)
c.3047A>G (p.Lys1016Arg)
c.2597A>G (p.Lys866Arg)
c.899A>G (p.Lys300Arg)
c.877-1715A>G (n.877-1715A>G)
c.2948A>G (p.Lys983Arg)
c.3061-1715A>G (n.3061-1715A>G)
c.2669A>G (p.Lys890Arg)
c.2731-1715A>G (n.2731-1715A>G)
c.1751A>G (p.Lys584Arg)
n.3302A>G
 dbSNP
13g.51944269T>GCA388030616ATP7Bc.*894-1715A>C (n.*894-1715A>C)
c.*1827A>C (n.*1827A>C)
c.2462A>C (p.Lys821Thr)
c.3083A>C (p.Lys1028Thr)
c.2750A>C (p.Lys917Thr)
c.2831A>C (p.Lys944Thr)
c.2849A>C (p.Lys950Thr)
n.3222A>C
n.3446A>C
c.2018A>C (p.Lys673Thr)
c.1793A>C (p.Lys598Thr)
c.2888A>C (p.Lys963Thr)
n.303A>C
c.1022-1715A>C
c.*184A>C (n.*184A>C)
n.3827A>C
n.2428A>C
c.2939A>C (p.Lys980Thr)
n.429A>C
c.2987A>C (p.Lys996Thr)
c.3047A>C (p.Lys1016Thr)
c.2597A>C (p.Lys866Thr)
c.899A>C (p.Lys300Thr)
c.877-1715A>C (n.877-1715A>C)
c.2948A>C (p.Lys983Thr)
c.3061-1715A>C (n.3061-1715A>C)
c.2669A>C (p.Lys890Thr)
c.2731-1715A>C (n.2731-1715A>C)
c.1751A>C (p.Lys584Thr)
n.3302A>C
13g.51944269T=CA2091564212ATP7Bc.*894-1715A= (n.*894-1715A=)
c.*1827A= (n.*1827A=)
c.2462A= (p.Lys821=)
c.3083A= (p.Lys1028=)
c.2750A= (p.Lys917=)
c.2831A= (p.Lys944=)
c.2849A= (p.Lys950=)
n.3222A=
n.3446A=
c.2018A= (p.Lys673=)
c.1793A= (p.Lys598=)
c.2888A= (p.Lys963=)
n.303A=
c.1022-1715A=
c.*184A= (n.*184A=)
n.3827A=
n.2428A=
c.2939A= (p.Lys980=)
n.429A=
c.2987A= (p.Lys996=)
c.3047A= (p.Lys1016=)
c.2597A= (p.Lys866=)
c.899A= (p.Lys300=)
c.877-1715A= (n.877-1715A=)
c.2948A= (p.Lys983=)
c.3061-1715A= (n.3061-1715A=)
c.2669A= (p.Lys890=)
c.2731-1715A= (n.2731-1715A=)
c.1751A= (p.Lys584=)
n.3302A=
13g.51944270delCA2623116470ATP7Bc.*894-1715del (n.*894-1715del)
c.*1827del (n.*1827del)
c.2462del (p.Lys821ArgfsTer?)
c.3083del (p.Lys1028ArgfsTer?)
c.2750del (p.Lys917ArgfsTer?)
c.2831del (p.Lys944ArgfsTer?)
c.2849del (p.Lys950ArgfsTer?)
n.3222del
n.3446del
c.2018del (p.Lys673ArgfsTer?)
c.1793del (p.Lys598ArgfsTer?)
c.2888del (p.Lys963ArgfsTer?)
n.303del
c.1022-1715del
c.*184del (n.*184del)
n.3827del
n.2428del
c.2939del (p.Lys980ArgfsTer?)
n.429del
c.2987del (p.Lys996ArgfsTer?)
c.3047del (p.Lys1016ArgfsTer?)
c.2597del (p.Lys866ArgfsTer?)
c.899del (p.Lys300ArgfsTer?)
c.877-1715del (n.877-1715del)
c.2948del (p.Lys983ArgfsTer?)
c.3061-1715del (n.3061-1715del)
c.2669del (p.Lys890ArgfsTer?)
c.2731-1715del (n.2731-1715del)
c.1751del (p.Lys584ArgfsTer?)
n.3302del
 gnomAD v4
13g.51944270T>ACA388030618ATP7Bc.*894-1716A>T (n.*894-1716A>T)
c.*1826A>T (n.*1826A>T)
c.2461A>T (p.Lys821Ter)
c.3082A>T (p.Lys1028Ter)
c.2749A>T (p.Lys917Ter)
c.2830A>T (p.Lys944Ter)
c.2848A>T (p.Lys950Ter)
n.3221A>T
n.3445A>T
c.2017A>T (p.Lys673Ter)
c.1792A>T (p.Lys598Ter)
c.2887A>T (p.Lys963Ter)
n.302A>T
c.1022-1716A>T
c.*183A>T (n.*183A>T)
n.3826A>T
n.2427A>T
c.2938A>T (p.Lys980Ter)
n.428A>T
c.2986A>T (p.Lys996Ter)
c.3046A>T (p.Lys1016Ter)
c.2596A>T (p.Lys866Ter)
c.898A>T (p.Lys300Ter)
c.877-1716A>T (n.877-1716A>T)
c.2947A>T (p.Lys983Ter)
c.3061-1716A>T (n.3061-1716A>T)
c.2668A>T (p.Lys890Ter)
c.2731-1716A>T (n.2731-1716A>T)
c.1750A>T (p.Lys584Ter)
n.3301A>T
13g.51944270T>CCA6988812ATP7Bc.*894-1716A>G (n.*894-1716A>G)
c.*1826A>G (n.*1826A>G)
c.2461A>G (p.Lys821Glu)
c.3082A>G (p.Lys1028Glu)
c.2749A>G (p.Lys917Glu)
c.2830A>G (p.Lys944Glu)
c.2848A>G (p.Lys950Glu)
n.3221A>G
n.3445A>G
c.2017A>G (p.Lys673Glu)
c.1792A>G (p.Lys598Glu)
c.2887A>G (p.Lys963Glu)
n.302A>G
c.1022-1716A>G
c.*183A>G (n.*183A>G)
n.3826A>G
n.2427A>G
c.2938A>G (p.Lys980Glu)
n.428A>G
c.2986A>G (p.Lys996Glu)
c.3046A>G (p.Lys1016Glu)
c.2596A>G (p.Lys866Glu)
c.898A>G (p.Lys300Glu)
c.877-1716A>G (n.877-1716A>G)
c.2947A>G (p.Lys983Glu)
c.3061-1716A>G (n.3061-1716A>G)
c.2668A>G (p.Lys890Glu)
c.2731-1716A>G (n.2731-1716A>G)
c.1750A>G (p.Lys584Glu)
n.3301A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944270T>GCA388030624ATP7Bc.*894-1716A>C (n.*894-1716A>C)
c.*1826A>C (n.*1826A>C)
c.2461A>C (p.Lys821Gln)
c.3082A>C (p.Lys1028Gln)
c.2749A>C (p.Lys917Gln)
c.2830A>C (p.Lys944Gln)
c.2848A>C (p.Lys950Gln)
n.3221A>C
n.3445A>C
c.2017A>C (p.Lys673Gln)
c.1792A>C (p.Lys598Gln)
c.2887A>C (p.Lys963Gln)
n.302A>C
c.1022-1716A>C
c.*183A>C (n.*183A>C)
n.3826A>C
n.2427A>C
c.2938A>C (p.Lys980Gln)
n.428A>C
c.2986A>C (p.Lys996Gln)
c.3046A>C (p.Lys1016Gln)
c.2596A>C (p.Lys866Gln)
c.898A>C (p.Lys300Gln)
c.877-1716A>C (n.877-1716A>C)
c.2947A>C (p.Lys983Gln)
c.3061-1716A>C (n.3061-1716A>C)
c.2668A>C (p.Lys890Gln)
c.2731-1716A>C (n.2731-1716A>C)
c.1750A>C (p.Lys584Gln)
n.3301A>C
13g.51944270T=CA2091564215ATP7Bc.*894-1716A= (n.*894-1716A=)
c.*1826A= (n.*1826A=)
c.2461A= (p.Lys821=)
c.3082A= (p.Lys1028=)
c.2749A= (p.Lys917=)
c.2830A= (p.Lys944=)
c.2848A= (p.Lys950=)
n.3221A=
n.3445A=
c.2017A= (p.Lys673=)
c.1792A= (p.Lys598=)
c.2887A= (p.Lys963=)
n.302A=
c.1022-1716A=
c.*183A= (n.*183A=)
n.3826A=
n.2427A=
c.2938A= (p.Lys980=)
n.428A=
c.2986A= (p.Lys996=)
c.3046A= (p.Lys1016=)
c.2596A= (p.Lys866=)
c.898A= (p.Lys300=)
c.877-1716A= (n.877-1716A=)
c.2947A= (p.Lys983=)
c.3061-1716A= (n.3061-1716A=)
c.2668A= (p.Lys890=)
c.2731-1716A= (n.2731-1716A=)
c.1750A= (p.Lys584=)
n.3301A=
13g.51944270_51944840delinsTGTCAAACATCACAGTCTTTATCTGCCAAAAACAACCACAACTCACTGACCACAATACAGATGGAGGGGCTTCCATAGTCACACTCCTGAGGCAGAACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCAGGACCCTGAGGGACACCTGCCTCCCTGTCCACTGCCATCCGCCGAGCCCAACCTCAGCTTCCTTTTGCCTGCCTAAGTGCAAAAGCTACTGGGAATAGAGTCCTCACACTCTGAGTTCAAGAAAGGAAAGGACTATTCTATGGCCATAATGACAAACAAACCCCCAGAGCCAGTTTTAAGTTGGTCACACTTAGTCAATGGCAGTCTGCAGACA2091564217ATP7Bc.*893+1444_*894-1716delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA (n.*893+1444_*894-1716delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA)
c.*1805-549_*1826delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
c.2440-549_2461delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
c.3061-549_3082delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
c.2728-549_2749delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
c.2809-549_2830delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
c.2827-549_2848delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
n.2651_3221delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
n.3424-549_3445delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
c.1996-549_2017delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
c.1771-549_1792delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
c.2866-549_2887delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
n.281-549_302delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
c.1021+1444_1022-1716delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
c.*162-549_*183delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
n.3805-549_3826delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
n.2406-549_2427delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
c.2917-549_2938delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
n.407-549_428delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
c.2965-549_2986delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
c.3025-549_3046delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
c.2575-549_2596delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
c.877-549_898delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
c.876+1444_877-1716delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA (n.876+1444_877-1716delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA)
c.2926-549_2947delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
c.3060+1444_3061-1716delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA (n.3060+1444_3061-1716delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA)
c.2647-549_2668delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
c.2731-2286_2731-1716delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA (n.2731-2286_2731-1716delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA)
c.1729-549_1750delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
n.3280-549_3301delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA
13g.51944271G>ACA483894764ATP7Bc.*894-1717C>T (n.*894-1717C>T)
c.*1825C>T (n.*1825C>T)
c.2460C>T (p.Asp820=)
c.3081C>T (p.Asp1027=)
c.2748C>T (p.Asp916=)
c.2829C>T (p.Asp943=)
c.2847C>T (p.Asp949=)
n.3220C>T
n.3444C>T
c.2016C>T (p.Asp672=)
c.1791C>T (p.Asp597=)
c.2886C>T (p.Asp962=)
n.301C>T
c.1022-1717C>T
c.*182C>T (n.*182C>T)
n.3825C>T
n.2426C>T
c.2937C>T (p.Asp979=)
n.427C>T
c.2985C>T (p.Asp995=)
c.3045C>T (p.Asp1015=)
c.2595C>T (p.Asp865=)
c.897C>T (p.Asp299=)
c.877-1717C>T (n.877-1717C>T)
c.2946C>T (p.Asp982=)
c.3061-1717C>T (n.3061-1717C>T)
c.2667C>T (p.Asp889=)
c.2731-1717C>T (n.2731-1717C>T)
c.1749C>T (p.Asp583=)
n.3300C>T
13g.51944271G>CCA388030629ATP7Bc.*894-1717C>G (n.*894-1717C>G)
c.*1825C>G (n.*1825C>G)
c.2460C>G (p.Asp820Glu)
c.3081C>G (p.Asp1027Glu)
c.2748C>G (p.Asp916Glu)
c.2829C>G (p.Asp943Glu)
c.2847C>G (p.Asp949Glu)
n.3220C>G
n.3444C>G
c.2016C>G (p.Asp672Glu)
c.1791C>G (p.Asp597Glu)
c.2886C>G (p.Asp962Glu)
n.301C>G
c.1022-1717C>G
c.*182C>G (n.*182C>G)
n.3825C>G
n.2426C>G
c.2937C>G (p.Asp979Glu)
n.427C>G
c.2985C>G (p.Asp995Glu)
c.3045C>G (p.Asp1015Glu)
c.2595C>G (p.Asp865Glu)
c.897C>G (p.Asp299Glu)
c.877-1717C>G (n.877-1717C>G)
c.2946C>G (p.Asp982Glu)
c.3061-1717C>G (n.3061-1717C>G)
c.2667C>G (p.Asp889Glu)
c.2731-1717C>G (n.2731-1717C>G)
c.1749C>G (p.Asp583Glu)
n.3300C>G
13g.51944271G>TCA388030635ATP7Bc.*894-1717C>A (n.*894-1717C>A)
c.*1825C>A (n.*1825C>A)
c.2460C>A (p.Asp820Glu)
c.3081C>A (p.Asp1027Glu)
c.2748C>A (p.Asp916Glu)
c.2829C>A (p.Asp943Glu)
c.2847C>A (p.Asp949Glu)
n.3220C>A
n.3444C>A
c.2016C>A (p.Asp672Glu)
c.1791C>A (p.Asp597Glu)
c.2886C>A (p.Asp962Glu)
n.301C>A
c.1022-1717C>A
c.*182C>A (n.*182C>A)
n.3825C>A
n.2426C>A
c.2937C>A (p.Asp979Glu)
n.427C>A
c.2985C>A (p.Asp995Glu)
c.3045C>A (p.Asp1015Glu)
c.2595C>A (p.Asp865Glu)
c.897C>A (p.Asp299Glu)
c.877-1717C>A (n.877-1717C>A)
c.2946C>A (p.Asp982Glu)
c.3061-1717C>A (n.3061-1717C>A)
c.2667C>A (p.Asp889Glu)
c.2731-1717C>A (n.2731-1717C>A)
c.1749C>A (p.Asp583Glu)
n.3300C>A
13g.51944274_51944843delCA916083356ATP7Bc.*893+1444_*894-1717del (n.*893+1444_*894-1717del)
c.*1805-549_*1825del
c.2440-549_2460del
c.3061-549_3081del
c.2728-549_2748del
c.2809-549_2829del
c.2827-549_2847del
n.2651_3220del
n.3424-549_3444del
c.1996-549_2016del
c.1771-549_1791del
c.2866-549_2886del
n.281-549_301del
c.1021+1444_1022-1717del
c.*162-549_*182del
n.3805-549_3825del
n.2406-549_2426del
c.2917-549_2937del
n.407-549_427del
c.2965-549_2985del
c.3025-549_3045del
c.2575-549_2595del
c.877-549_897del
c.876+1444_877-1717del (n.876+1444_877-1717del)
c.2926-549_2946del
c.3060+1444_3061-1717del (n.3060+1444_3061-1717del)
c.2647-549_2667del
c.2731-2286_2731-1717del (n.2731-2286_2731-1717del)
c.1729-549_1749del
n.3280-549_3300del
 ClinVar dbSNP
13g.51944272T>ACA388030648ATP7Bc.*894-1718A>T (n.*894-1718A>T)
c.*1824A>T (n.*1824A>T)
c.2459A>T (p.Asp820Val)
c.3080A>T (p.Asp1027Val)
c.2747A>T (p.Asp916Val)
c.2828A>T (p.Asp943Val)
c.2846A>T (p.Asp949Val)
n.3219A>T
n.3443A>T
c.2015A>T (p.Asp672Val)
c.1790A>T (p.Asp597Val)
c.2885A>T (p.Asp962Val)
n.300A>T
c.1022-1718A>T
c.*181A>T (n.*181A>T)
n.3824A>T
n.2425A>T
c.2936A>T (p.Asp979Val)
n.426A>T
c.2984A>T (p.Asp995Val)
c.3044A>T (p.Asp1015Val)
c.2594A>T (p.Asp865Val)
c.896A>T (p.Asp299Val)
c.877-1718A>T (n.877-1718A>T)
c.2945A>T (p.Asp982Val)
c.3061-1718A>T (n.3061-1718A>T)
c.2666A>T (p.Asp889Val)
c.2731-1718A>T (n.2731-1718A>T)
c.1748A>T (p.Asp583Val)
n.3299A>T
13g.51944272T>CCA388030649ATP7Bc.*894-1718A>G (n.*894-1718A>G)
c.*1824A>G (n.*1824A>G)
c.2459A>G (p.Asp820Gly)
c.3080A>G (p.Asp1027Gly)
c.2747A>G (p.Asp916Gly)
c.2828A>G (p.Asp943Gly)
c.2846A>G (p.Asp949Gly)
n.3219A>G
n.3443A>G
c.2015A>G (p.Asp672Gly)
c.1790A>G (p.Asp597Gly)
c.2885A>G (p.Asp962Gly)
n.300A>G
c.1022-1718A>G
c.*181A>G (n.*181A>G)
n.3824A>G
n.2425A>G
c.2936A>G (p.Asp979Gly)
n.426A>G
c.2984A>G (p.Asp995Gly)
c.3044A>G (p.Asp1015Gly)
c.2594A>G (p.Asp865Gly)
c.896A>G (p.Asp299Gly)
c.877-1718A>G (n.877-1718A>G)
c.2945A>G (p.Asp982Gly)
c.3061-1718A>G (n.3061-1718A>G)
c.2666A>G (p.Asp889Gly)
c.2731-1718A>G (n.2731-1718A>G)
c.1748A>G (p.Asp583Gly)
n.3299A>G
13g.51944272T>GCA388030651ATP7Bc.*894-1718A>C (n.*894-1718A>C)
c.*1824A>C (n.*1824A>C)
c.2459A>C (p.Asp820Ala)
c.3080A>C (p.Asp1027Ala)
c.2747A>C (p.Asp916Ala)
c.2828A>C (p.Asp943Ala)
c.2846A>C (p.Asp949Ala)
n.3219A>C
n.3443A>C
c.2015A>C (p.Asp672Ala)
c.1790A>C (p.Asp597Ala)
c.2885A>C (p.Asp962Ala)
n.300A>C
c.1022-1718A>C
c.*181A>C (n.*181A>C)
n.3824A>C
n.2425A>C
c.2936A>C (p.Asp979Ala)
n.426A>C
c.2984A>C (p.Asp995Ala)
c.3044A>C (p.Asp1015Ala)
c.2594A>C (p.Asp865Ala)
c.896A>C (p.Asp299Ala)
c.877-1718A>C (n.877-1718A>C)
c.2945A>C (p.Asp982Ala)
c.3061-1718A>C (n.3061-1718A>C)
c.2666A>C (p.Asp889Ala)
c.2731-1718A>C (n.2731-1718A>C)
c.1748A>C (p.Asp583Ala)
n.3299A>C
13g.51944273C>ACA388030655ATP7Bc.*894-1719G>T (n.*894-1719G>T)
c.*1823G>T (n.*1823G>T)
c.2458G>T (p.Asp820Tyr)
c.3079G>T (p.Asp1027Tyr)
c.2746G>T (p.Asp916Tyr)
c.2827G>T (p.Asp943Tyr)
c.2845G>T (p.Asp949Tyr)
n.3218G>T
n.3442G>T
c.2014G>T (p.Asp672Tyr)
c.1789G>T (p.Asp597Tyr)
c.2884G>T (p.Asp962Tyr)
n.299G>T
c.1022-1719G>T
c.*180G>T (n.*180G>T)
n.3823G>T
n.2424G>T
c.2935G>T (p.Asp979Tyr)
n.425G>T
c.2983G>T (p.Asp995Tyr)
c.3043G>T (p.Asp1015Tyr)
c.2593G>T (p.Asp865Tyr)
c.895G>T (p.Asp299Tyr)
c.877-1719G>T (n.877-1719G>T)
c.2944G>T (p.Asp982Tyr)
c.3061-1719G>T (n.3061-1719G>T)
c.2665G>T (p.Asp889Tyr)
c.2731-1719G>T (n.2731-1719G>T)
c.1747G>T (p.Asp583Tyr)
n.3298G>T
13g.51944273C=CA2091564229ATP7Bc.*894-1719G= (n.*894-1719G=)
c.*1823G= (n.*1823G=)
c.2458G= (p.Asp820=)
c.3079G= (p.Asp1027=)
c.2746G= (p.Asp916=)
c.2827G= (p.Asp943=)
c.2845G= (p.Asp949=)
n.3218G=
n.3442G=
c.2014G= (p.Asp672=)
c.1789G= (p.Asp597=)
c.2884G= (p.Asp962=)
n.299G=
c.1022-1719G=
c.*180G= (n.*180G=)
n.3823G=
n.2424G=
c.2935G= (p.Asp979=)
n.425G=
c.2983G= (p.Asp995=)
c.3043G= (p.Asp1015=)
c.2593G= (p.Asp865=)
c.895G= (p.Asp299=)
c.877-1719G= (n.877-1719G=)
c.2944G= (p.Asp982=)
c.3061-1719G= (n.3061-1719G=)
c.2665G= (p.Asp889=)
c.2731-1719G= (n.2731-1719G=)
c.1747G= (p.Asp583=)
n.3298G=
13g.51944273C>GCA388030658ATP7Bc.*894-1719G>C (n.*894-1719G>C)
c.*1823G>C (n.*1823G>C)
c.2458G>C (p.Asp820His)
c.3079G>C (p.Asp1027His)
c.2746G>C (p.Asp916His)
c.2827G>C (p.Asp943His)
c.2845G>C (p.Asp949His)
n.3218G>C
n.3442G>C
c.2014G>C (p.Asp672His)
c.1789G>C (p.Asp597His)
c.2884G>C (p.Asp962His)
n.299G>C
c.1022-1719G>C
c.*180G>C (n.*180G>C)
n.3823G>C
n.2424G>C
c.2935G>C (p.Asp979His)
n.425G>C
c.2983G>C (p.Asp995His)
c.3043G>C (p.Asp1015His)
c.2593G>C (p.Asp865His)
c.895G>C (p.Asp299His)
c.877-1719G>C (n.877-1719G>C)
c.2944G>C (p.Asp982His)
c.3061-1719G>C (n.3061-1719G>C)
c.2665G>C (p.Asp889His)
c.2731-1719G>C (n.2731-1719G>C)
c.1747G>C (p.Asp583His)
n.3298G>C
 ClinVar dbSNP gnomAD v4 COSMIC
13g.51944273C>TCA388030659ATP7Bc.*894-1719G>A (n.*894-1719G>A)
c.*1823G>A (n.*1823G>A)
c.2458G>A (p.Asp820Asn)
c.3079G>A (p.Asp1027Asn)
c.2746G>A (p.Asp916Asn)
c.2827G>A (p.Asp943Asn)
c.2845G>A (p.Asp949Asn)
n.3218G>A
n.3442G>A
c.2014G>A (p.Asp672Asn)
c.1789G>A (p.Asp597Asn)
c.2884G>A (p.Asp962Asn)
n.299G>A
c.1022-1719G>A
c.*180G>A (n.*180G>A)
n.3823G>A
n.2424G>A
c.2935G>A (p.Asp979Asn)
n.425G>A
c.2983G>A (p.Asp995Asn)
c.3043G>A (p.Asp1015Asn)
c.2593G>A (p.Asp865Asn)
c.895G>A (p.Asp299Asn)
c.877-1719G>A (n.877-1719G>A)
c.2944G>A (p.Asp982Asn)
c.3061-1719G>A (n.3061-1719G>A)
c.2665G>A (p.Asp889Asn)
c.2731-1719G>A (n.2731-1719G>A)
c.1747G>A (p.Asp583Asn)
n.3298G>A
13g.51944274A=CA2091564233ATP7Bc.*894-1720T= (n.*894-1720T=)
c.*1822T= (n.*1822T=)
c.2457T= (p.Phe819=)
c.3078T= (p.Phe1026=)
c.2745T= (p.Phe915=)
c.2826T= (p.Phe942=)
c.2844T= (p.Phe948=)
n.3217T=
n.3441T=
c.2013T= (p.Phe671=)
c.1788T= (p.Phe596=)
c.2883T= (p.Phe961=)
n.298T=
c.1022-1720T=
c.*179T= (n.*179T=)
n.3822T=
n.2423T=
c.2934T= (p.Phe978=)
n.424T=
c.2982T= (p.Phe994=)
c.3042T= (p.Phe1014=)
c.2592T= (p.Phe864=)
c.894T= (p.Phe298=)
c.877-1720T= (n.877-1720T=)
c.2943T= (p.Phe981=)
c.3061-1720T= (n.3061-1720T=)
c.2664T= (p.Phe888=)
c.2731-1720T= (n.2731-1720T=)
c.1746T= (p.Phe582=)
n.3297T=
13g.51944274A>CCA388030661ATP7Bc.*894-1720T>G (n.*894-1720T>G)
c.*1822T>G (n.*1822T>G)
c.2457T>G (p.Phe819Leu)
c.3078T>G (p.Phe1026Leu)
c.2745T>G (p.Phe915Leu)
c.2826T>G (p.Phe942Leu)
c.2844T>G (p.Phe948Leu)
n.3217T>G
n.3441T>G
c.2013T>G (p.Phe671Leu)
c.1788T>G (p.Phe596Leu)
c.2883T>G (p.Phe961Leu)
n.298T>G
c.1022-1720T>G
c.*179T>G (n.*179T>G)
n.3822T>G
n.2423T>G
c.2934T>G (p.Phe978Leu)
n.424T>G
c.2982T>G (p.Phe994Leu)
c.3042T>G (p.Phe1014Leu)
c.2592T>G (p.Phe864Leu)
c.894T>G (p.Phe298Leu)
c.877-1720T>G (n.877-1720T>G)
c.2943T>G (p.Phe981Leu)
c.3061-1720T>G (n.3061-1720T>G)
c.2664T>G (p.Phe888Leu)
c.2731-1720T>G (n.2731-1720T>G)
c.1746T>G (p.Phe582Leu)
n.3297T>G
13g.51944274A>GCA483894765ATP7Bc.*894-1720T>C (n.*894-1720T>C)
c.*1822T>C (n.*1822T>C)
c.2457T>C (p.Phe819=)
c.3078T>C (p.Phe1026=)
c.2745T>C (p.Phe915=)
c.2826T>C (p.Phe942=)
c.2844T>C (p.Phe948=)
n.3217T>C
n.3441T>C
c.2013T>C (p.Phe671=)
c.1788T>C (p.Phe596=)
c.2883T>C (p.Phe961=)
n.298T>C
c.1022-1720T>C
c.*179T>C (n.*179T>C)
n.3822T>C
n.2423T>C
c.2934T>C (p.Phe978=)
n.424T>C
c.2982T>C (p.Phe994=)
c.3042T>C (p.Phe1014=)
c.2592T>C (p.Phe864=)
c.894T>C (p.Phe298=)
c.877-1720T>C (n.877-1720T>C)
c.2943T>C (p.Phe981=)
c.3061-1720T>C (n.3061-1720T>C)
c.2664T>C (p.Phe888=)
c.2731-1720T>C (n.2731-1720T>C)
c.1746T>C (p.Phe582=)
n.3297T>C
 dbSNP
13g.51944274A>TCA388030665ATP7Bc.*894-1720T>A (n.*894-1720T>A)
c.*1822T>A (n.*1822T>A)
c.2457T>A (p.Phe819Leu)
c.3078T>A (p.Phe1026Leu)
c.2745T>A (p.Phe915Leu)
c.2826T>A (p.Phe942Leu)
c.2844T>A (p.Phe948Leu)
n.3217T>A
n.3441T>A
c.2013T>A (p.Phe671Leu)
c.1788T>A (p.Phe596Leu)
c.2883T>A (p.Phe961Leu)
n.298T>A
c.1022-1720T>A
c.*179T>A (n.*179T>A)
n.3822T>A
n.2423T>A
c.2934T>A (p.Phe978Leu)
n.424T>A
c.2982T>A (p.Phe994Leu)
c.3042T>A (p.Phe1014Leu)
c.2592T>A (p.Phe864Leu)
c.894T>A (p.Phe298Leu)
c.877-1720T>A (n.877-1720T>A)
c.2943T>A (p.Phe981Leu)
c.3061-1720T>A (n.3061-1720T>A)
c.2664T>A (p.Phe888Leu)
c.2731-1720T>A (n.2731-1720T>A)
c.1746T>A (p.Phe582Leu)
n.3297T>A
13g.51944275A>CCA388030673ATP7Bc.*894-1721T>G (n.*894-1721T>G)
c.*1821T>G (n.*1821T>G)
c.2456T>G (p.Phe819Cys)
c.3077T>G (p.Phe1026Cys)
c.2744T>G (p.Phe915Cys)
c.2825T>G (p.Phe942Cys)
c.2843T>G (p.Phe948Cys)
n.3216T>G
n.3440T>G
c.2012T>G (p.Phe671Cys)
c.1787T>G (p.Phe596Cys)
c.2882T>G (p.Phe961Cys)
n.297T>G
c.1022-1721T>G
c.*178T>G (n.*178T>G)
n.3821T>G
n.2422T>G
c.2933T>G (p.Phe978Cys)
n.423T>G
c.2981T>G (p.Phe994Cys)
c.3041T>G (p.Phe1014Cys)
c.2591T>G (p.Phe864Cys)
c.893T>G (p.Phe298Cys)
c.877-1721T>G (n.877-1721T>G)
c.2942T>G (p.Phe981Cys)
c.3061-1721T>G (n.3061-1721T>G)
c.2663T>G (p.Phe888Cys)
c.2731-1721T>G (n.2731-1721T>G)
c.1745T>G (p.Phe582Cys)
n.3296T>G
13g.51944275A>GCA388030677ATP7Bc.*894-1721T>C (n.*894-1721T>C)
c.*1821T>C (n.*1821T>C)
c.2456T>C (p.Phe819Ser)
c.3077T>C (p.Phe1026Ser)
c.2744T>C (p.Phe915Ser)
c.2825T>C (p.Phe942Ser)
c.2843T>C (p.Phe948Ser)
n.3216T>C
n.3440T>C
c.2012T>C (p.Phe671Ser)
c.1787T>C (p.Phe596Ser)
c.2882T>C (p.Phe961Ser)
n.297T>C
c.1022-1721T>C
c.*178T>C (n.*178T>C)
n.3821T>C
n.2422T>C
c.2933T>C (p.Phe978Ser)
n.423T>C
c.2981T>C (p.Phe994Ser)
c.3041T>C (p.Phe1014Ser)
c.2591T>C (p.Phe864Ser)
c.893T>C (p.Phe298Ser)
c.877-1721T>C (n.877-1721T>C)
c.2942T>C (p.Phe981Ser)
c.3061-1721T>C (n.3061-1721T>C)
c.2663T>C (p.Phe888Ser)
c.2731-1721T>C (n.2731-1721T>C)
c.1745T>C (p.Phe582Ser)
n.3296T>C
13g.51944275A>TCA388030679ATP7Bc.*894-1721T>A (n.*894-1721T>A)
c.*1821T>A (n.*1821T>A)
c.2456T>A (p.Phe819Tyr)
c.3077T>A (p.Phe1026Tyr)
c.2744T>A (p.Phe915Tyr)
c.2825T>A (p.Phe942Tyr)
c.2843T>A (p.Phe948Tyr)
n.3216T>A
n.3440T>A
c.2012T>A (p.Phe671Tyr)
c.1787T>A (p.Phe596Tyr)
c.2882T>A (p.Phe961Tyr)
n.297T>A
c.1022-1721T>A
c.*178T>A (n.*178T>A)
n.3821T>A
n.2422T>A
c.2933T>A (p.Phe978Tyr)
n.423T>A
c.2981T>A (p.Phe994Tyr)
c.3041T>A (p.Phe1014Tyr)
c.2591T>A (p.Phe864Tyr)
c.893T>A (p.Phe298Tyr)
c.877-1721T>A (n.877-1721T>A)
c.2942T>A (p.Phe981Tyr)
c.3061-1721T>A (n.3061-1721T>A)
c.2663T>A (p.Phe888Tyr)
c.2731-1721T>A (n.2731-1721T>A)
c.1745T>A (p.Phe582Tyr)
n.3296T>A
13g.51944276A=CA2091564236ATP7Bc.*894-1722T= (n.*894-1722T=)
c.*1820T= (n.*1820T=)
c.2455T= (p.Phe819=)
c.3076T= (p.Phe1026=)
c.2743T= (p.Phe915=)
c.2824T= (p.Phe942=)
c.2842T= (p.Phe948=)
n.3215T=
n.3439T=
c.2011T= (p.Phe671=)
c.1786T= (p.Phe596=)
c.2881T= (p.Phe961=)
n.296T=
c.1022-1722T=
c.*177T= (n.*177T=)
n.3820T=
n.2421T=
c.2932T= (p.Phe978=)
n.422T=
c.2980T= (p.Phe994=)
c.3040T= (p.Phe1014=)
c.2590T= (p.Phe864=)
c.892T= (p.Phe298=)
c.877-1722T= (n.877-1722T=)
c.2941T= (p.Phe981=)
c.3061-1722T= (n.3061-1722T=)
c.2662T= (p.Phe888=)
c.2731-1722T= (n.2731-1722T=)
c.1744T= (p.Phe582=)
n.3295T=
13g.51944276A>CCA388030683ATP7Bc.*894-1722T>G (n.*894-1722T>G)
c.*1820T>G (n.*1820T>G)
c.2455T>G (p.Phe819Val)
c.3076T>G (p.Phe1026Val)
c.2743T>G (p.Phe915Val)
c.2824T>G (p.Phe942Val)
c.2842T>G (p.Phe948Val)
n.3215T>G
n.3439T>G
c.2011T>G (p.Phe671Val)
c.1786T>G (p.Phe596Val)
c.2881T>G (p.Phe961Val)
n.296T>G
c.1022-1722T>G
c.*177T>G (n.*177T>G)
n.3820T>G
n.2421T>G
c.2932T>G (p.Phe978Val)
n.422T>G
c.2980T>G (p.Phe994Val)
c.3040T>G (p.Phe1014Val)
c.2590T>G (p.Phe864Val)
c.892T>G (p.Phe298Val)
c.877-1722T>G (n.877-1722T>G)
c.2941T>G (p.Phe981Val)
c.3061-1722T>G (n.3061-1722T>G)
c.2662T>G (p.Phe888Val)
c.2731-1722T>G (n.2731-1722T>G)
c.1744T>G (p.Phe582Val)
n.3295T>G
13g.51944276A>GCA388030685ATP7Bc.*894-1722T>C (n.*894-1722T>C)
c.*1820T>C (n.*1820T>C)
c.2455T>C (p.Phe819Leu)
c.3076T>C (p.Phe1026Leu)
c.2743T>C (p.Phe915Leu)
c.2824T>C (p.Phe942Leu)
c.2842T>C (p.Phe948Leu)
n.3215T>C
n.3439T>C
c.2011T>C (p.Phe671Leu)
c.1786T>C (p.Phe596Leu)
c.2881T>C (p.Phe961Leu)
n.296T>C
c.1022-1722T>C
c.*177T>C (n.*177T>C)
n.3820T>C
n.2421T>C
c.2932T>C (p.Phe978Leu)
n.422T>C
c.2980T>C (p.Phe994Leu)
c.3040T>C (p.Phe1014Leu)
c.2590T>C (p.Phe864Leu)
c.892T>C (p.Phe298Leu)
c.877-1722T>C (n.877-1722T>C)
c.2941T>C (p.Phe981Leu)
c.3061-1722T>C (n.3061-1722T>C)
c.2662T>C (p.Phe888Leu)
c.2731-1722T>C (n.2731-1722T>C)
c.1744T>C (p.Phe582Leu)
n.3295T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51944276A>TCA388030686ATP7Bc.*894-1722T>A (n.*894-1722T>A)
c.*1820T>A (n.*1820T>A)
c.2455T>A (p.Phe819Ile)
c.3076T>A (p.Phe1026Ile)
c.2743T>A (p.Phe915Ile)
c.2824T>A (p.Phe942Ile)
c.2842T>A (p.Phe948Ile)
n.3215T>A
n.3439T>A
c.2011T>A (p.Phe671Ile)
c.1786T>A (p.Phe596Ile)
c.2881T>A (p.Phe961Ile)
n.296T>A
c.1022-1722T>A
c.*177T>A (n.*177T>A)
n.3820T>A
n.2421T>A
c.2932T>A (p.Phe978Ile)
n.422T>A
c.2980T>A (p.Phe994Ile)
c.3040T>A (p.Phe1014Ile)
c.2590T>A (p.Phe864Ile)
c.892T>A (p.Phe298Ile)
c.877-1722T>A (n.877-1722T>A)
c.2941T>A (p.Phe981Ile)
c.3061-1722T>A (n.3061-1722T>A)
c.2662T>A (p.Phe888Ile)
c.2731-1722T>A (n.2731-1722T>A)
c.1744T>A (p.Phe582Ile)
n.3295T>A
13g.51944276_51944277insGGCAATCGTGCGCACCTTTGCCAATGTCTCCATATAGTTAGAGCCCTTAATGAGCACACCCTTTCGCGATGCTCCACCGATGCCTCCAAAGAAAGTGAGAGGCACGGAGATAACGAGAGCACAAGGGCA610425798ATP7Bc.*894-1723_*894-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (n.*894-1723_*894-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC)
c.*1819_*1820insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (n.*1819_*1820insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC)
c.2454_2455insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe819ProfsTer27)
c.3075_3076insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe1026ProfsTer27)
c.2742_2743insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe915ProfsTer27)
c.2823_2824insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe942ProfsTer27)
c.2841_2842insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe948ProfsTer27)
n.3214_3215insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC
n.3438_3439insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC
c.2010_2011insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe671ProfsTer27)
c.1785_1786insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe596ProfsTer27)
c.2880_2881insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe961ProfsTer27)
n.295_296insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC
c.1022-1723_1022-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC
c.*176_*177insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (n.*176_*177insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC)
n.3819_3820insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC
n.2420_2421insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC
c.2931_2932insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe978ProfsTer27)
n.421_422insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC
c.2979_2980insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe994ProfsTer27)
c.3039_3040insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe1014ProfsTer27)
c.2589_2590insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe864ProfsTer27)
c.891_892insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe298ProfsTer27)
c.877-1723_877-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (n.877-1723_877-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC)
c.2940_2941insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe981ProfsTer27)
c.3061-1723_3061-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (n.3061-1723_3061-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC)
c.2661_2662insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe888ProfsTer27)
c.2731-1723_2731-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (n.2731-1723_2731-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC)
c.1743_1744insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe582ProfsTer27)
n.3294_3295insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC
 gnomAD v2
13g.51944277C>ACA388030687ATP7Bc.*894-1723G>T (n.*894-1723G>T)
c.*1819G>T (n.*1819G>T)
c.2454G>T (p.Met818Ile)
c.3075G>T (p.Met1025Ile)
c.2742G>T (p.Met914Ile)
c.2823G>T (p.Met941Ile)
c.2841G>T (p.Met947Ile)
n.3214G>T
n.3438G>T
c.2010G>T (p.Met670Ile)
c.1785G>T (p.Met595Ile)
c.2880G>T (p.Met960Ile)
n.295G>T
c.1022-1723G>T
c.*176G>T (n.*176G>T)
n.3819G>T
n.2420G>T
c.2931G>T (p.Met977Ile)
n.421G>T
c.2979G>T (p.Met993Ile)
c.3039G>T (p.Met1013Ile)
c.2589G>T (p.Met863Ile)
c.891G>T (p.Met297Ile)
c.877-1723G>T (n.877-1723G>T)
c.2940G>T (p.Met980Ile)
c.3061-1723G>T (n.3061-1723G>T)
c.2661G>T (p.Met887Ile)
c.2731-1723G>T (n.2731-1723G>T)
c.1743G>T (p.Met581Ile)
n.3294G>T
13g.51944277C>GCA388030688ATP7Bc.*894-1723G>C (n.*894-1723G>C)
c.*1819G>C (n.*1819G>C)
c.2454G>C (p.Met818Ile)
c.3075G>C (p.Met1025Ile)
c.2742G>C (p.Met914Ile)
c.2823G>C (p.Met941Ile)
c.2841G>C (p.Met947Ile)
n.3214G>C
n.3438G>C
c.2010G>C (p.Met670Ile)
c.1785G>C (p.Met595Ile)
c.2880G>C (p.Met960Ile)
n.295G>C
c.1022-1723G>C
c.*176G>C (n.*176G>C)
n.3819G>C
n.2420G>C
c.2931G>C (p.Met977Ile)
n.421G>C
c.2979G>C (p.Met993Ile)
c.3039G>C (p.Met1013Ile)
c.2589G>C (p.Met863Ile)
c.891G>C (p.Met297Ile)
c.877-1723G>C (n.877-1723G>C)
c.2940G>C (p.Met980Ile)
c.3061-1723G>C (n.3061-1723G>C)
c.2661G>C (p.Met887Ile)
c.2731-1723G>C (n.2731-1723G>C)
c.1743G>C (p.Met581Ile)
n.3294G>C
13g.51944277C>TCA388030691ATP7Bc.*894-1723G>A (n.*894-1723G>A)
c.*1819G>A (n.*1819G>A)
c.2454G>A (p.Met818Ile)
c.3075G>A (p.Met1025Ile)
c.2742G>A (p.Met914Ile)
c.2823G>A (p.Met941Ile)
c.2841G>A (p.Met947Ile)
n.3214G>A
n.3438G>A
c.2010G>A (p.Met670Ile)
c.1785G>A (p.Met595Ile)
c.2880G>A (p.Met960Ile)
n.295G>A
c.1022-1723G>A
c.*176G>A (n.*176G>A)
n.3819G>A
n.2420G>A
c.2931G>A (p.Met977Ile)
n.421G>A
c.2979G>A (p.Met993Ile)
c.3039G>A (p.Met1013Ile)
c.2589G>A (p.Met863Ile)
c.891G>A (p.Met297Ile)
c.877-1723G>A (n.877-1723G>A)
c.2940G>A (p.Met980Ile)
c.3061-1723G>A (n.3061-1723G>A)
c.2661G>A (p.Met887Ile)
c.2731-1723G>A (n.2731-1723G>A)
c.1743G>A (p.Met581Ile)
n.3294G>A
13g.51944278A=CA2091564242ATP7Bc.*894-1724T= (n.*894-1724T=)
c.*1818T= (n.*1818T=)
c.2453T= (p.Met818=)
c.3074T= (p.Met1025=)
c.2741T= (p.Met914=)
c.2822T= (p.Met941=)
c.2840T= (p.Met947=)
n.3213T=
n.3437T=
c.2009T= (p.Met670=)
c.1784T= (p.Met595=)
c.2879T= (p.Met960=)
n.294T=
c.1022-1724T=
c.*175T= (n.*175T=)
n.3818T=
n.2419T=
c.2930T= (p.Met977=)
n.420T=
c.2978T= (p.Met993=)
c.3038T= (p.Met1013=)
c.2588T= (p.Met863=)
c.890T= (p.Met297=)
c.877-1724T= (n.877-1724T=)
c.2939T= (p.Met980=)
c.3061-1724T= (n.3061-1724T=)
c.2660T= (p.Met887=)
c.2731-1724T= (n.2731-1724T=)
c.1742T= (p.Met581=)
n.3293T=
13g.51944278A>CCA388030694ATP7Bc.*894-1724T>G (n.*894-1724T>G)
c.*1818T>G (n.*1818T>G)
c.2453T>G (p.Met818Arg)
c.3074T>G (p.Met1025Arg)
c.2741T>G (p.Met914Arg)
c.2822T>G (p.Met941Arg)
c.2840T>G (p.Met947Arg)
n.3213T>G
n.3437T>G
c.2009T>G (p.Met670Arg)
c.1784T>G (p.Met595Arg)
c.2879T>G (p.Met960Arg)
n.294T>G
c.1022-1724T>G
c.*175T>G (n.*175T>G)
n.3818T>G
n.2419T>G
c.2930T>G (p.Met977Arg)
n.420T>G
c.2978T>G (p.Met993Arg)
c.3038T>G (p.Met1013Arg)
c.2588T>G (p.Met863Arg)
c.890T>G (p.Met297Arg)
c.877-1724T>G (n.877-1724T>G)
c.2939T>G (p.Met980Arg)
c.3061-1724T>G (n.3061-1724T>G)
c.2660T>G (p.Met887Arg)
c.2731-1724T>G (n.2731-1724T>G)
c.1742T>G (p.Met581Arg)
n.3293T>G
 ClinVar dbSNP
13g.51944278A>GCA388030698ATP7Bc.*894-1724T>C (n.*894-1724T>C)
c.*1818T>C (n.*1818T>C)
c.2453T>C (p.Met818Thr)
c.3074T>C (p.Met1025Thr)
c.2741T>C (p.Met914Thr)
c.2822T>C (p.Met941Thr)
c.2840T>C (p.Met947Thr)
n.3213T>C
n.3437T>C
c.2009T>C (p.Met670Thr)
c.1784T>C (p.Met595Thr)
c.2879T>C (p.Met960Thr)
n.294T>C
c.1022-1724T>C
c.*175T>C (n.*175T>C)
n.3818T>C
n.2419T>C
c.2930T>C (p.Met977Thr)
n.420T>C
c.2978T>C (p.Met993Thr)
c.3038T>C (p.Met1013Thr)
c.2588T>C (p.Met863Thr)
c.890T>C (p.Met297Thr)
c.877-1724T>C (n.877-1724T>C)
c.2939T>C (p.Met980Thr)
c.3061-1724T>C (n.3061-1724T>C)
c.2660T>C (p.Met887Thr)
c.2731-1724T>C (n.2731-1724T>C)
c.1742T>C (p.Met581Thr)
n.3293T>C
 ClinVar gnomAD v4
13g.51944278A>TCA388030705ATP7Bc.*894-1724T>A (n.*894-1724T>A)
c.*1818T>A (n.*1818T>A)
c.2453T>A (p.Met818Lys)
c.3074T>A (p.Met1025Lys)
c.2741T>A (p.Met914Lys)
c.2822T>A (p.Met941Lys)
c.2840T>A (p.Met947Lys)
n.3213T>A
n.3437T>A
c.2009T>A (p.Met670Lys)
c.1784T>A (p.Met595Lys)
c.2879T>A (p.Met960Lys)
n.294T>A
c.1022-1724T>A
c.*175T>A (n.*175T>A)
n.3818T>A
n.2419T>A
c.2930T>A (p.Met977Lys)
n.420T>A
c.2978T>A (p.Met993Lys)
c.3038T>A (p.Met1013Lys)
c.2588T>A (p.Met863Lys)
c.890T>A (p.Met297Lys)
c.877-1724T>A (n.877-1724T>A)
c.2939T>A (p.Met980Lys)
c.3061-1724T>A (n.3061-1724T>A)
c.2660T>A (p.Met887Lys)
c.2731-1724T>A (n.2731-1724T>A)
c.1742T>A (p.Met581Lys)
n.3293T>A
 ClinVar dbSNP
13g.51944279T>ACA388030730ATP7Bc.*894-1725A>T (n.*894-1725A>T)
c.*1817A>T (n.*1817A>T)
c.2452A>T (p.Met818Leu)
c.3073A>T (p.Met1025Leu)
c.2740A>T (p.Met914Leu)
c.2821A>T (p.Met941Leu)
c.2839A>T (p.Met947Leu)
n.3212A>T
n.3436A>T
c.2008A>T (p.Met670Leu)
c.1783A>T (p.Met595Leu)
c.2878A>T (p.Met960Leu)
n.293A>T
c.1022-1725A>T
c.*174A>T (n.*174A>T)
n.3817A>T
n.2418A>T
c.2929A>T (p.Met977Leu)
n.419A>T
c.2977A>T (p.Met993Leu)
c.3037A>T (p.Met1013Leu)
c.2587A>T (p.Met863Leu)
c.889A>T (p.Met297Leu)
c.877-1725A>T (n.877-1725A>T)
c.2938A>T (p.Met980Leu)
c.3061-1725A>T (n.3061-1725A>T)
c.2659A>T (p.Met887Leu)
c.2731-1725A>T (n.2731-1725A>T)
c.1741A>T (p.Met581Leu)
n.3292A>T
13g.51944279T>CCA388030719ATP7Bc.*894-1725A>G (n.*894-1725A>G)
c.*1817A>G (n.*1817A>G)
c.2452A>G (p.Met818Val)
c.3073A>G (p.Met1025Val)
c.2740A>G (p.Met914Val)
c.2821A>G (p.Met941Val)
c.2839A>G (p.Met947Val)
n.3212A>G
n.3436A>G
c.2008A>G (p.Met670Val)
c.1783A>G (p.Met595Val)
c.2878A>G (p.Met960Val)
n.293A>G
c.1022-1725A>G
c.*174A>G (n.*174A>G)
n.3817A>G
n.2418A>G
c.2929A>G (p.Met977Val)
n.419A>G
c.2977A>G (p.Met993Val)
c.3037A>G (p.Met1013Val)
c.2587A>G (p.Met863Val)
c.889A>G (p.Met297Val)
c.877-1725A>G (n.877-1725A>G)
c.2938A>G (p.Met980Val)
c.3061-1725A>G (n.3061-1725A>G)
c.2659A>G (p.Met887Val)
c.2731-1725A>G (n.2731-1725A>G)
c.1741A>G (p.Met581Val)
n.3292A>G
 gnomAD v4
13g.51944279T>GCA388030712ATP7Bc.*894-1725A>C (n.*894-1725A>C)
c.*1817A>C (n.*1817A>C)
c.2452A>C (p.Met818Leu)
c.3073A>C (p.Met1025Leu)
c.2740A>C (p.Met914Leu)
c.2821A>C (p.Met941Leu)
c.2839A>C (p.Met947Leu)
n.3212A>C
n.3436A>C
c.2008A>C (p.Met670Leu)
c.1783A>C (p.Met595Leu)
c.2878A>C (p.Met960Leu)
n.293A>C
c.1022-1725A>C
c.*174A>C (n.*174A>C)
n.3817A>C
n.2418A>C
c.2929A>C (p.Met977Leu)
n.419A>C
c.2977A>C (p.Met993Leu)
c.3037A>C (p.Met1013Leu)
c.2587A>C (p.Met863Leu)
c.889A>C (p.Met297Leu)
c.877-1725A>C (n.877-1725A>C)
c.2938A>C (p.Met980Leu)
c.3061-1725A>C (n.3061-1725A>C)
c.2659A>C (p.Met887Leu)
c.2731-1725A>C (n.2731-1725A>C)
c.1741A>C (p.Met581Leu)
n.3292A>C
13g.51944279_51944281delinsTCACA2091564245ATP7Bc.*894-1727_*894-1725delinsTGA (n.*894-1727_*894-1725delinsTGA)
c.*1815_*1817delinsTGA (n.*1815_*1817delinsTGA)
c.2450_2452delinsTGA (p.Val817=)
c.3071_3073delinsTGA (p.Val1024=)
c.2738_2740delinsTGA (p.Val913=)
c.2819_2821delinsTGA (p.Val940=)
c.2837_2839delinsTGA (p.Val946=)
n.3210_3212delinsTGA
n.3434_3436delinsTGA
c.2006_2008delinsTGA (p.Val669=)
c.1781_1783delinsTGA (p.Val594=)
c.2876_2878delinsTGA (p.Val959=)
n.291_293delinsTGA
c.1022-1727_1022-1725delinsTGA
c.*172_*174delinsTGA (n.*172_*174delinsTGA)
n.3815_3817delinsTGA
n.2416_2418delinsTGA
c.2927_2929delinsTGA (p.Val976=)
n.417_419delinsTGA
c.2975_2977delinsTGA (p.Val992=)
c.3035_3037delinsTGA (p.Val1012=)
c.2585_2587delinsTGA (p.Val862=)
c.887_889delinsTGA (p.Val296=)
c.877-1727_877-1725delinsTGA (n.877-1727_877-1725delinsTGA)
c.2936_2938delinsTGA (p.Val979=)
c.3061-1727_3061-1725delinsTGA (n.3061-1727_3061-1725delinsTGA)
c.2657_2659delinsTGA (p.Val886=)
c.2731-1727_2731-1725delinsTGA (n.2731-1727_2731-1725delinsTGA)
c.1739_1741delinsTGA (p.Val580=)
n.3290_3292delinsTGA
13g.51944280C>ACA483894766ATP7Bc.*894-1726G>T (n.*894-1726G>T)
c.*1816G>T (n.*1816G>T)
c.2451G>T (p.Val817=)
c.3072G>T (p.Val1024=)
c.2739G>T (p.Val913=)
c.2820G>T (p.Val940=)
c.2838G>T (p.Val946=)
n.3211G>T
n.3435G>T
c.2007G>T (p.Val669=)
c.1782G>T (p.Val594=)
c.2877G>T (p.Val959=)
n.292G>T
c.1022-1726G>T
c.*173G>T (n.*173G>T)
n.3816G>T
n.2417G>T
c.2928G>T (p.Val976=)
n.418G>T
c.2976G>T (p.Val992=)
c.3036G>T (p.Val1012=)
c.2586G>T (p.Val862=)
c.888G>T (p.Val296=)
c.877-1726G>T (n.877-1726G>T)
c.2937G>T (p.Val979=)
c.3061-1726G>T (n.3061-1726G>T)
c.2658G>T (p.Val886=)
c.2731-1726G>T (n.2731-1726G>T)
c.1740G>T (p.Val580=)
n.3291G>T
13g.51944280C>GCA483894767ATP7Bc.*894-1726G>C (n.*894-1726G>C)
c.*1816G>C (n.*1816G>C)
c.2451G>C (p.Val817=)
c.3072G>C (p.Val1024=)
c.2739G>C (p.Val913=)
c.2820G>C (p.Val940=)
c.2838G>C (p.Val946=)
n.3211G>C
n.3435G>C
c.2007G>C (p.Val669=)
c.1782G>C (p.Val594=)
c.2877G>C (p.Val959=)
n.292G>C
c.1022-1726G>C
c.*173G>C (n.*173G>C)
n.3816G>C
n.2417G>C
c.2928G>C (p.Val976=)
n.418G>C
c.2976G>C (p.Val992=)
c.3036G>C (p.Val1012=)
c.2586G>C (p.Val862=)
c.888G>C (p.Val296=)
c.877-1726G>C (n.877-1726G>C)
c.2937G>C (p.Val979=)
c.3061-1726G>C (n.3061-1726G>C)
c.2658G>C (p.Val886=)
c.2731-1726G>C (n.2731-1726G>C)
c.1740G>C (p.Val580=)
n.3291G>C
13g.51944280C>TCA483894768ATP7Bc.*894-1726G>A (n.*894-1726G>A)
c.*1816G>A (n.*1816G>A)
c.2451G>A (p.Val817=)
c.3072G>A (p.Val1024=)
c.2739G>A (p.Val913=)
c.2820G>A (p.Val940=)
c.2838G>A (p.Val946=)
n.3211G>A
n.3435G>A
c.2007G>A (p.Val669=)
c.1782G>A (p.Val594=)
c.2877G>A (p.Val959=)
n.292G>A
c.1022-1726G>A
c.*173G>A (n.*173G>A)
n.3816G>A
n.2417G>A
c.2928G>A (p.Val976=)
n.418G>A
c.2976G>A (p.Val992=)
c.3036G>A (p.Val1012=)
c.2586G>A (p.Val862=)
c.888G>A (p.Val296=)
c.877-1726G>A (n.877-1726G>A)
c.2937G>A (p.Val979=)
c.3061-1726G>A (n.3061-1726G>A)
c.2658G>A (p.Val886=)
c.2731-1726G>A (n.2731-1726G>A)
c.1740G>A (p.Val580=)
n.3291G>A
13g.51944282_51944283delCA2091564247ATP7Bc.*894-1727_*894-1726del (n.*894-1727_*894-1726del)
c.*1815_*1816del (n.*1815_*1816del)
c.2450_2451del (p.Val817AspfsTer3)
c.3071_3072del (p.Val1024AspfsTer3)
c.2738_2739del (p.Val913AspfsTer3)
c.2819_2820del (p.Val940AspfsTer3)
c.2837_2838del (p.Val946AspfsTer3)
n.3210_3211del
n.3434_3435del
c.2006_2007del (p.Val669AspfsTer3)
c.1781_1782del (p.Val594AspfsTer3)
c.2876_2877del (p.Val959AspfsTer3)
n.291_292del
c.1022-1727_1022-1726del
c.*172_*173del (n.*172_*173del)
n.3815_3816del
n.2416_2417del
c.2927_2928del (p.Val976AspfsTer3)
n.417_418del
c.2975_2976del (p.Val992AspfsTer3)
c.3035_3036del (p.Val1012AspfsTer3)
c.2585_2586del (p.Val862AspfsTer3)
c.887_888del (p.Val296AspfsTer3)
c.877-1727_877-1726del (n.877-1727_877-1726del)
c.2936_2937del (p.Val979AspfsTer3)
c.3061-1727_3061-1726del (n.3061-1727_3061-1726del)
c.2657_2658del (p.Val886AspfsTer3)
c.2731-1727_2731-1726del (n.2731-1727_2731-1726del)
c.1739_1740del (p.Val580AspfsTer3)
n.3290_3291del
 ClinVar dbSNP gnomAD v4
13g.51944281A=CA2091564253ATP7Bc.*894-1727T= (n.*894-1727T=)
c.*1815T= (n.*1815T=)
c.2450T= (p.Val817=)
c.3071T= (p.Val1024=)
c.2738T= (p.Val913=)
c.2819T= (p.Val940=)
c.2837T= (p.Val946=)
n.3210T=
n.3434T=
c.2006T= (p.Val669=)
c.1781T= (p.Val594=)
c.2876T= (p.Val959=)
n.291T=
c.1022-1727T=
c.*172T= (n.*172T=)
n.3815T=
n.2416T=
c.2927T= (p.Val976=)
n.417T=
c.2975T= (p.Val992=)
c.3035T= (p.Val1012=)
c.2585T= (p.Val862=)
c.887T= (p.Val296=)
c.877-1727T= (n.877-1727T=)
c.2936T= (p.Val979=)
c.3061-1727T= (n.3061-1727T=)
c.2657T= (p.Val886=)
c.2731-1727T= (n.2731-1727T=)
c.1739T= (p.Val580=)
n.3290T=
13g.51944281A>CCA388030734ATP7Bc.*894-1727T>G (n.*894-1727T>G)
c.*1815T>G (n.*1815T>G)
c.2450T>G (p.Val817Gly)
c.3071T>G (p.Val1024Gly)
c.2738T>G (p.Val913Gly)
c.2819T>G (p.Val940Gly)
c.2837T>G (p.Val946Gly)
n.3210T>G
n.3434T>G
c.2006T>G (p.Val669Gly)
c.1781T>G (p.Val594Gly)
c.2876T>G (p.Val959Gly)
n.291T>G
c.1022-1727T>G
c.*172T>G (n.*172T>G)
n.3815T>G
n.2416T>G
c.2927T>G (p.Val976Gly)
n.417T>G
c.2975T>G (p.Val992Gly)
c.3035T>G (p.Val1012Gly)
c.2585T>G (p.Val862Gly)
c.887T>G (p.Val296Gly)
c.877-1727T>G (n.877-1727T>G)
c.2936T>G (p.Val979Gly)
c.3061-1727T>G (n.3061-1727T>G)
c.2657T>G (p.Val886Gly)
c.2731-1727T>G (n.2731-1727T>G)
c.1739T>G (p.Val580Gly)
n.3290T>G
13g.51944281A>GCA388030735ATP7Bc.*894-1727T>C (n.*894-1727T>C)
c.*1815T>C (n.*1815T>C)
c.2450T>C (p.Val817Ala)
c.3071T>C (p.Val1024Ala)
c.2738T>C (p.Val913Ala)
c.2819T>C (p.Val940Ala)
c.2837T>C (p.Val946Ala)
n.3210T>C
n.3434T>C
c.2006T>C (p.Val669Ala)
c.1781T>C (p.Val594Ala)
c.2876T>C (p.Val959Ala)
n.291T>C
c.1022-1727T>C
c.*172T>C (n.*172T>C)
n.3815T>C
n.2416T>C
c.2927T>C (p.Val976Ala)
n.417T>C
c.2975T>C (p.Val992Ala)
c.3035T>C (p.Val1012Ala)
c.2585T>C (p.Val862Ala)
c.887T>C (p.Val296Ala)
c.877-1727T>C (n.877-1727T>C)
c.2936T>C (p.Val979Ala)
c.3061-1727T>C (n.3061-1727T>C)
c.2657T>C (p.Val886Ala)
c.2731-1727T>C (n.2731-1727T>C)
c.1739T>C (p.Val580Ala)
n.3290T>C
 ClinVar dbSNP
13g.51944281A>TCA388030740ATP7Bc.*894-1727T>A (n.*894-1727T>A)
c.*1815T>A (n.*1815T>A)
c.2450T>A (p.Val817Glu)
c.3071T>A (p.Val1024Glu)
c.2738T>A (p.Val913Glu)
c.2819T>A (p.Val940Glu)
c.2837T>A (p.Val946Glu)
n.3210T>A
n.3434T>A
c.2006T>A (p.Val669Glu)
c.1781T>A (p.Val594Glu)
c.2876T>A (p.Val959Glu)
n.291T>A
c.1022-1727T>A
c.*172T>A (n.*172T>A)
n.3815T>A
n.2416T>A
c.2927T>A (p.Val976Glu)
n.417T>A
c.2975T>A (p.Val992Glu)
c.3035T>A (p.Val1012Glu)
c.2585T>A (p.Val862Glu)
c.887T>A (p.Val296Glu)
c.877-1727T>A (n.877-1727T>A)
c.2936T>A (p.Val979Glu)
c.3061-1727T>A (n.3061-1727T>A)
c.2657T>A (p.Val886Glu)
c.2731-1727T>A (n.2731-1727T>A)
c.1739T>A (p.Val580Glu)
n.3290T>A
13g.51944282C>ACA388030741ATP7Bc.*894-1728G>T (n.*894-1728G>T)
c.*1814G>T (n.*1814G>T)
c.2449G>T (p.Val817Leu)
c.3070G>T (p.Val1024Leu)
c.2737G>T (p.Val913Leu)
c.2818G>T (p.Val940Leu)
c.2836G>T (p.Val946Leu)
n.3209G>T
n.3433G>T
c.2005G>T (p.Val669Leu)
c.1780G>T (p.Val594Leu)
c.2875G>T (p.Val959Leu)
n.290G>T
c.1022-1728G>T
c.*171G>T (n.*171G>T)
n.3814G>T
n.2415G>T
c.2926G>T (p.Val976Leu)
n.416G>T
c.2974G>T (p.Val992Leu)
c.3034G>T (p.Val1012Leu)
c.2584G>T (p.Val862Leu)
c.886G>T (p.Val296Leu)
c.877-1728G>T (n.877-1728G>T)
c.2935G>T (p.Val979Leu)
c.3061-1728G>T (n.3061-1728G>T)
c.2656G>T (p.Val886Leu)
c.2731-1728G>T (n.2731-1728G>T)
c.1738G>T (p.Val580Leu)
n.3289G>T
13g.51944282C=CA2091564257ATP7Bc.*894-1728G= (n.*894-1728G=)
c.*1814G= (n.*1814G=)
c.2449G= (p.Val817=)
c.3070G= (p.Val1024=)
c.2737G= (p.Val913=)
c.2818G= (p.Val940=)
c.2836G= (p.Val946=)
n.3209G=
n.3433G=
c.2005G= (p.Val669=)
c.1780G= (p.Val594=)
c.2875G= (p.Val959=)
n.290G=
c.1022-1728G=
c.*171G= (n.*171G=)
n.3814G=
n.2415G=
c.2926G= (p.Val976=)
n.416G=
c.2974G= (p.Val992=)
c.3034G= (p.Val1012=)
c.2584G= (p.Val862=)
c.886G= (p.Val296=)
c.877-1728G= (n.877-1728G=)
c.2935G= (p.Val979=)
c.3061-1728G= (n.3061-1728G=)
c.2656G= (p.Val886=)
c.2731-1728G= (n.2731-1728G=)
c.1738G= (p.Val580=)
n.3289G=
13g.51944282C>GCA250080284ATP7Bc.*894-1728G>C (n.*894-1728G>C)
c.*1814G>C (n.*1814G>C)
c.2449G>C (p.Val817Leu)
c.3070G>C (p.Val1024Leu)
c.2737G>C (p.Val913Leu)
c.2818G>C (p.Val940Leu)
c.2836G>C (p.Val946Leu)
n.3209G>C
n.3433G>C
c.2005G>C (p.Val669Leu)
c.1780G>C (p.Val594Leu)
c.2875G>C (p.Val959Leu)
n.290G>C
c.1022-1728G>C
c.*171G>C (n.*171G>C)
n.3814G>C
n.2415G>C
c.2926G>C (p.Val976Leu)
n.416G>C
c.2974G>C (p.Val992Leu)
c.3034G>C (p.Val1012Leu)
c.2584G>C (p.Val862Leu)
c.886G>C (p.Val296Leu)
c.877-1728G>C (n.877-1728G>C)
c.2935G>C (p.Val979Leu)
c.3061-1728G>C (n.3061-1728G>C)
c.2656G>C (p.Val886Leu)
c.2731-1728G>C (n.2731-1728G>C)
c.1738G>C (p.Val580Leu)
n.3289G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51944282C>TCA388030742ATP7Bc.*894-1728G>A (n.*894-1728G>A)
c.*1814G>A (n.*1814G>A)
c.2449G>A (p.Val817Met)
c.3070G>A (p.Val1024Met)
c.2737G>A (p.Val913Met)
c.2818G>A (p.Val940Met)
c.2836G>A (p.Val946Met)
n.3209G>A
n.3433G>A
c.2005G>A (p.Val669Met)
c.1780G>A (p.Val594Met)
c.2875G>A (p.Val959Met)
n.290G>A
c.1022-1728G>A
c.*171G>A (n.*171G>A)
n.3814G>A
n.2415G>A
c.2926G>A (p.Val976Met)
n.416G>A
c.2974G>A (p.Val992Met)
c.3034G>A (p.Val1012Met)
c.2584G>A (p.Val862Met)
c.886G>A (p.Val296Met)
c.877-1728G>A (n.877-1728G>A)
c.2935G>A (p.Val979Met)
c.3061-1728G>A (n.3061-1728G>A)
c.2656G>A (p.Val886Met)
c.2731-1728G>A (n.2731-1728G>A)
c.1738G>A (p.Val580Met)
n.3289G>A
13g.51944283A=CA2091564262ATP7Bc.*894-1729T= (n.*894-1729T=)
c.*1813T= (n.*1813T=)
c.2448T= (p.Thr816=)
c.3069T= (p.Thr1023=)
c.2736T= (p.Thr912=)
c.2817T= (p.Thr939=)
c.2835T= (p.Thr945=)
n.3208T=
n.3432T=
c.2004T= (p.Thr668=)
c.1779T= (p.Thr593=)
c.2874T= (p.Thr958=)
n.289T=
c.1022-1729T=
c.*170T= (n.*170T=)
n.3813T=
n.2414T=
c.2925T= (p.Thr975=)
n.415T=
c.2973T= (p.Thr991=)
c.3033T= (p.Thr1011=)
c.2583T= (p.Thr861=)
c.885T= (p.Thr295=)
c.877-1729T= (n.877-1729T=)
c.2934T= (p.Thr978=)
c.3061-1729T= (n.3061-1729T=)
c.2655T= (p.Thr885=)
c.2731-1729T= (n.2731-1729T=)
c.1737T= (p.Thr579=)
n.3288T=
13g.51944283A>CCA483894769ATP7Bc.*894-1729T>G (n.*894-1729T>G)
c.*1813T>G (n.*1813T>G)
c.2448T>G (p.Thr816=)
c.3069T>G (p.Thr1023=)
c.2736T>G (p.Thr912=)
c.2817T>G (p.Thr939=)
c.2835T>G (p.Thr945=)
n.3208T>G
n.3432T>G
c.2004T>G (p.Thr668=)
c.1779T>G (p.Thr593=)
c.2874T>G (p.Thr958=)
n.289T>G
c.1022-1729T>G
c.*170T>G (n.*170T>G)
n.3813T>G
n.2414T>G
c.2925T>G (p.Thr975=)
n.415T>G
c.2973T>G (p.Thr991=)
c.3033T>G (p.Thr1011=)
c.2583T>G (p.Thr861=)
c.885T>G (p.Thr295=)
c.877-1729T>G (n.877-1729T>G)
c.2934T>G (p.Thr978=)
c.3061-1729T>G (n.3061-1729T>G)
c.2655T>G (p.Thr885=)
c.2731-1729T>G (n.2731-1729T>G)
c.1737T>G (p.Thr579=)
n.3288T>G
13g.51944283A>GCA205295ATP7Bc.*894-1729T>C (n.*894-1729T>C)
c.*1813T>C (n.*1813T>C)
c.2448T>C (p.Thr816=)
c.3069T>C (p.Thr1023=)
c.2736T>C (p.Thr912=)
c.2817T>C (p.Thr939=)
c.2835T>C (p.Thr945=)
n.3208T>C
n.3432T>C
c.2004T>C (p.Thr668=)
c.1779T>C (p.Thr593=)
c.2874T>C (p.Thr958=)
n.289T>C
c.1022-1729T>C
c.*170T>C (n.*170T>C)
n.3813T>C
n.2414T>C
c.2925T>C (p.Thr975=)
n.415T>C
c.2973T>C (p.Thr991=)
c.3033T>C (p.Thr1011=)
c.2583T>C (p.Thr861=)
c.885T>C (p.Thr295=)
c.877-1729T>C (n.877-1729T>C)
c.2934T>C (p.Thr978=)
c.3061-1729T>C (n.3061-1729T>C)
c.2655T>C (p.Thr885=)
c.2731-1729T>C (n.2731-1729T>C)
c.1737T>C (p.Thr579=)
n.3288T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944283A>TCA483894770ATP7Bc.*894-1729T>A (n.*894-1729T>A)
c.*1813T>A (n.*1813T>A)
c.2448T>A (p.Thr816=)
c.3069T>A (p.Thr1023=)
c.2736T>A (p.Thr912=)
c.2817T>A (p.Thr939=)
c.2835T>A (p.Thr945=)
n.3208T>A
n.3432T>A
c.2004T>A (p.Thr668=)
c.1779T>A (p.Thr593=)
c.2874T>A (p.Thr958=)
n.289T>A
c.1022-1729T>A
c.*170T>A (n.*170T>A)
n.3813T>A
n.2414T>A
c.2925T>A (p.Thr975=)
n.415T>A
c.2973T>A (p.Thr991=)
c.3033T>A (p.Thr1011=)
c.2583T>A (p.Thr861=)
c.885T>A (p.Thr295=)
c.877-1729T>A (n.877-1729T>A)
c.2934T>A (p.Thr978=)
c.3061-1729T>A (n.3061-1729T>A)
c.2655T>A (p.Thr885=)
c.2731-1729T>A (n.2731-1729T>A)
c.1737T>A (p.Thr579=)
n.3288T>A
 dbSNP
13g.51944284G>ACA388030750ATP7Bc.*894-1730C>T (n.*894-1730C>T)
c.*1812C>T (n.*1812C>T)
c.2447C>T (p.Thr816Ile)
c.3068C>T (p.Thr1023Ile)
c.2735C>T (p.Thr912Ile)
c.2816C>T (p.Thr939Ile)
c.2834C>T (p.Thr945Ile)
n.3207C>T
n.3431C>T
c.2003C>T (p.Thr668Ile)
c.1778C>T (p.Thr593Ile)
c.2873C>T (p.Thr958Ile)
n.288C>T
c.1022-1730C>T
c.*169C>T (n.*169C>T)
n.3812C>T
n.2413C>T
c.2924C>T (p.Thr975Ile)
n.414C>T
c.2972C>T (p.Thr991Ile)
c.3032C>T (p.Thr1011Ile)
c.2582C>T (p.Thr861Ile)
c.884C>T (p.Thr295Ile)
c.877-1730C>T (n.877-1730C>T)
c.2933C>T (p.Thr978Ile)
c.3061-1730C>T (n.3061-1730C>T)
c.2654C>T (p.Thr885Ile)
c.2731-1730C>T (n.2731-1730C>T)
c.1736C>T (p.Thr579Ile)
n.3287C>T
13g.51944284G>CCA388030752ATP7Bc.*894-1730C>G (n.*894-1730C>G)
c.*1812C>G (n.*1812C>G)
c.2447C>G (p.Thr816Ser)
c.3068C>G (p.Thr1023Ser)
c.2735C>G (p.Thr912Ser)
c.2816C>G (p.Thr939Ser)
c.2834C>G (p.Thr945Ser)
n.3207C>G
n.3431C>G
c.2003C>G (p.Thr668Ser)
c.1778C>G (p.Thr593Ser)
c.2873C>G (p.Thr958Ser)
n.288C>G
c.1022-1730C>G
c.*169C>G (n.*169C>G)
n.3812C>G
n.2413C>G
c.2924C>G (p.Thr975Ser)
n.414C>G
c.2972C>G (p.Thr991Ser)
c.3032C>G (p.Thr1011Ser)
c.2582C>G (p.Thr861Ser)
c.884C>G (p.Thr295Ser)
c.877-1730C>G (n.877-1730C>G)
c.2933C>G (p.Thr978Ser)
c.3061-1730C>G (n.3061-1730C>G)
c.2654C>G (p.Thr885Ser)
c.2731-1730C>G (n.2731-1730C>G)
c.1736C>G (p.Thr579Ser)
n.3287C>G
13g.51944284G>TCA388030753ATP7Bc.*894-1730C>A (n.*894-1730C>A)
c.*1812C>A (n.*1812C>A)
c.2447C>A (p.Thr816Asn)
c.3068C>A (p.Thr1023Asn)
c.2735C>A (p.Thr912Asn)
c.2816C>A (p.Thr939Asn)
c.2834C>A (p.Thr945Asn)
n.3207C>A
n.3431C>A
c.2003C>A (p.Thr668Asn)
c.1778C>A (p.Thr593Asn)
c.2873C>A (p.Thr958Asn)
n.288C>A
c.1022-1730C>A
c.*169C>A (n.*169C>A)
n.3812C>A
n.2413C>A
c.2924C>A (p.Thr975Asn)
n.414C>A
c.2972C>A (p.Thr991Asn)
c.3032C>A (p.Thr1011Asn)
c.2582C>A (p.Thr861Asn)
c.884C>A (p.Thr295Asn)
c.877-1730C>A (n.877-1730C>A)
c.2933C>A (p.Thr978Asn)
c.3061-1730C>A (n.3061-1730C>A)
c.2654C>A (p.Thr885Asn)
c.2731-1730C>A (n.2731-1730C>A)
c.1736C>A (p.Thr579Asn)
n.3287C>A
13g.51944285T>ACA388030754ATP7Bc.*894-1731A>T (n.*894-1731A>T)
c.*1811A>T (n.*1811A>T)
c.2446A>T (p.Thr816Ser)
c.3067A>T (p.Thr1023Ser)
c.2734A>T (p.Thr912Ser)
c.2815A>T (p.Thr939Ser)
c.2833A>T (p.Thr945Ser)
n.3206A>T
n.3430A>T
c.2002A>T (p.Thr668Ser)
c.1777A>T (p.Thr593Ser)
c.2872A>T (p.Thr958Ser)
n.287A>T
c.1022-1731A>T
c.*168A>T (n.*168A>T)
n.3811A>T
n.2412A>T
c.2923A>T (p.Thr975Ser)
n.413A>T
c.2971A>T (p.Thr991Ser)
c.3031A>T (p.Thr1011Ser)
c.2581A>T (p.Thr861Ser)
c.883A>T (p.Thr295Ser)
c.877-1731A>T (n.877-1731A>T)
c.2932A>T (p.Thr978Ser)
c.3061-1731A>T (n.3061-1731A>T)
c.2653A>T (p.Thr885Ser)
c.2731-1731A>T (n.2731-1731A>T)
c.1735A>T (p.Thr579Ser)
n.3286A>T
13g.51944285T>CCA6988813ATP7Bc.*894-1731A>G (n.*894-1731A>G)
c.*1811A>G (n.*1811A>G)
c.2446A>G (p.Thr816Ala)
c.3067A>G (p.Thr1023Ala)
c.2734A>G (p.Thr912Ala)
c.2815A>G (p.Thr939Ala)
c.2833A>G (p.Thr945Ala)
n.3206A>G
n.3430A>G
c.2002A>G (p.Thr668Ala)
c.1777A>G (p.Thr593Ala)
c.2872A>G (p.Thr958Ala)
n.287A>G
c.1022-1731A>G
c.*168A>G (n.*168A>G)
n.3811A>G
n.2412A>G
c.2923A>G (p.Thr975Ala)
n.413A>G
c.2971A>G (p.Thr991Ala)
c.3031A>G (p.Thr1011Ala)
c.2581A>G (p.Thr861Ala)
c.883A>G (p.Thr295Ala)
c.877-1731A>G (n.877-1731A>G)
c.2932A>G (p.Thr978Ala)
c.3061-1731A>G (n.3061-1731A>G)
c.2653A>G (p.Thr885Ala)
c.2731-1731A>G (n.2731-1731A>G)
c.1735A>G (p.Thr579Ala)
n.3286A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944285T>GCA388030760ATP7Bc.*894-1731A>C (n.*894-1731A>C)
c.*1811A>C (n.*1811A>C)
c.2446A>C (p.Thr816Pro)
c.3067A>C (p.Thr1023Pro)
c.2734A>C (p.Thr912Pro)
c.2815A>C (p.Thr939Pro)
c.2833A>C (p.Thr945Pro)
n.3206A>C
n.3430A>C
c.2002A>C (p.Thr668Pro)
c.1777A>C (p.Thr593Pro)
c.2872A>C (p.Thr958Pro)
n.287A>C
c.1022-1731A>C
c.*168A>C (n.*168A>C)
n.3811A>C
n.2412A>C
c.2923A>C (p.Thr975Pro)
n.413A>C
c.2971A>C (p.Thr991Pro)
c.3031A>C (p.Thr1011Pro)
c.2581A>C (p.Thr861Pro)
c.883A>C (p.Thr295Pro)
c.877-1731A>C (n.877-1731A>C)
c.2932A>C (p.Thr978Pro)
c.3061-1731A>C (n.3061-1731A>C)
c.2653A>C (p.Thr885Pro)
c.2731-1731A>C (n.2731-1731A>C)
c.1735A>C (p.Thr579Pro)
n.3286A>C
13g.51944285T=CA2091564268ATP7Bc.*894-1731A= (n.*894-1731A=)
c.*1811A= (n.*1811A=)
c.2446A= (p.Thr816=)
c.3067A= (p.Thr1023=)
c.2734A= (p.Thr912=)
c.2815A= (p.Thr939=)
c.2833A= (p.Thr945=)
n.3206A=
n.3430A=
c.2002A= (p.Thr668=)
c.1777A= (p.Thr593=)
c.2872A= (p.Thr958=)
n.287A=
c.1022-1731A=
c.*168A= (n.*168A=)
n.3811A=
n.2412A=
c.2923A= (p.Thr975=)
n.413A=
c.2971A= (p.Thr991=)
c.3031A= (p.Thr1011=)
c.2581A= (p.Thr861=)
c.883A= (p.Thr295=)
c.877-1731A= (n.877-1731A=)
c.2932A= (p.Thr978=)
c.3061-1731A= (n.3061-1731A=)
c.2653A= (p.Thr885=)
c.2731-1731A= (n.2731-1731A=)
c.1735A= (p.Thr579=)
n.3286A=
13g.51944286_51944288delCA2623116490ATP7Bc.*894-1733_*894-1731del (n.*894-1733_*894-1731del)
c.*1809_*1811del (n.*1809_*1811del)
c.2444_2446del (p.Lys815del)
c.3065_3067del (p.Lys1022del)
c.2732_2734del (p.Lys911del)
c.2813_2815del (p.Lys938del)
c.2831_2833del (p.Lys944del)
n.3204_3206del
n.3428_3430del
c.2000_2002del (p.Lys667del)
c.1775_1777del (p.Lys592del)
c.2870_2872del (p.Lys957del)
n.285_287del
c.1022-1733_1022-1731del
c.*166_*168del (n.*166_*168del)
n.3809_3811del
n.2410_2412del
c.2921_2923del (p.Lys974del)
n.411_413del
c.2969_2971del (p.Lys990del)
c.3029_3031del (p.Lys1010del)
c.2579_2581del (p.Lys860del)
c.881_883del (p.Lys294del)
c.877-1733_877-1731del (n.877-1733_877-1731del)
c.2930_2932del (p.Lys977del)
c.3061-1733_3061-1731del (n.3061-1733_3061-1731del)
c.2651_2653del (p.Lys884del)
c.2731-1733_2731-1731del (n.2731-1733_2731-1731del)
c.1733_1735del (p.Lys578del)
n.3284_3286del
 gnomAD v4
13g.51944286C>ACA388030765ATP7Bc.*894-1732G>T (n.*894-1732G>T)
c.*1810G>T (n.*1810G>T)
c.2445G>T (p.Lys815Asn)
c.3066G>T (p.Lys1022Asn)
c.2733G>T (p.Lys911Asn)
c.2814G>T (p.Lys938Asn)
c.2832G>T (p.Lys944Asn)
n.3205G>T
n.3429G>T
c.2001G>T (p.Lys667Asn)
c.1776G>T (p.Lys592Asn)
c.2871G>T (p.Lys957Asn)
n.286G>T
c.1022-1732G>T
c.*167G>T (n.*167G>T)
n.3810G>T
n.2411G>T
c.2922G>T (p.Lys974Asn)
n.412G>T
c.2970G>T (p.Lys990Asn)
c.3030G>T (p.Lys1010Asn)
c.2580G>T (p.Lys860Asn)
c.882G>T (p.Lys294Asn)
c.877-1732G>T (n.877-1732G>T)
c.2931G>T (p.Lys977Asn)
c.3061-1732G>T (n.3061-1732G>T)
c.2652G>T (p.Lys884Asn)
c.2731-1732G>T (n.2731-1732G>T)
c.1734G>T (p.Lys578Asn)
n.3285G>T
13g.51944286C>GCA388030764ATP7Bc.*894-1732G>C (n.*894-1732G>C)
c.*1810G>C (n.*1810G>C)
c.2445G>C (p.Lys815Asn)
c.3066G>C (p.Lys1022Asn)
c.2733G>C (p.Lys911Asn)
c.2814G>C (p.Lys938Asn)
c.2832G>C (p.Lys944Asn)
n.3205G>C
n.3429G>C
c.2001G>C (p.Lys667Asn)
c.1776G>C (p.Lys592Asn)
c.2871G>C (p.Lys957Asn)
n.286G>C
c.1022-1732G>C
c.*167G>C (n.*167G>C)
n.3810G>C
n.2411G>C
c.2922G>C (p.Lys974Asn)
n.412G>C
c.2970G>C (p.Lys990Asn)
c.3030G>C (p.Lys1010Asn)
c.2580G>C (p.Lys860Asn)
c.882G>C (p.Lys294Asn)
c.877-1732G>C (n.877-1732G>C)
c.2931G>C (p.Lys977Asn)
c.3061-1732G>C (n.3061-1732G>C)
c.2652G>C (p.Lys884Asn)
c.2731-1732G>C (n.2731-1732G>C)
c.1734G>C (p.Lys578Asn)
n.3285G>C
13g.51944286C>TCA483894771ATP7Bc.*894-1732G>A (n.*894-1732G>A)
c.*1810G>A (n.*1810G>A)
c.2445G>A (p.Lys815=)
c.3066G>A (p.Lys1022=)
c.2733G>A (p.Lys911=)
c.2814G>A (p.Lys938=)
c.2832G>A (p.Lys944=)
n.3205G>A
n.3429G>A
c.2001G>A (p.Lys667=)
c.1776G>A (p.Lys592=)
c.2871G>A (p.Lys957=)
n.286G>A
c.1022-1732G>A
c.*167G>A (n.*167G>A)
n.3810G>A
n.2411G>A
c.2922G>A (p.Lys974=)
n.412G>A
c.2970G>A (p.Lys990=)
c.3030G>A (p.Lys1010=)
c.2580G>A (p.Lys860=)
c.882G>A (p.Lys294=)
c.877-1732G>A (n.877-1732G>A)
c.2931G>A (p.Lys977=)
c.3061-1732G>A (n.3061-1732G>A)
c.2652G>A (p.Lys884=)
c.2731-1732G>A (n.2731-1732G>A)
c.1734G>A (p.Lys578=)
n.3285G>A
 ClinVar dbSNP gnomAD v4
13g.51944287T>ACA388030772ATP7Bc.*894-1733A>T (n.*894-1733A>T)
c.*1809A>T (n.*1809A>T)
c.2444A>T (p.Lys815Met)
c.3065A>T (p.Lys1022Met)
c.2732A>T (p.Lys911Met)
c.2813A>T (p.Lys938Met)
c.2831A>T (p.Lys944Met)
n.3204A>T
n.3428A>T
c.2000A>T (p.Lys667Met)
c.1775A>T (p.Lys592Met)
c.2870A>T (p.Lys957Met)
n.285A>T
c.1022-1733A>T
c.*166A>T (n.*166A>T)
n.3809A>T
n.2410A>T
c.2921A>T (p.Lys974Met)
n.411A>T
c.2969A>T (p.Lys990Met)
c.3029A>T (p.Lys1010Met)
c.2579A>T (p.Lys860Met)
c.881A>T (p.Lys294Met)
c.877-1733A>T (n.877-1733A>T)
c.2930A>T (p.Lys977Met)
c.3061-1733A>T (n.3061-1733A>T)
c.2651A>T (p.Lys884Met)
c.2731-1733A>T (n.2731-1733A>T)
c.1733A>T (p.Lys578Met)
n.3284A>T
13g.51944287T>CCA388030783ATP7Bc.*894-1733A>G (n.*894-1733A>G)
c.*1809A>G (n.*1809A>G)
c.2444A>G (p.Lys815Arg)
c.3065A>G (p.Lys1022Arg)
c.2732A>G (p.Lys911Arg)
c.2813A>G (p.Lys938Arg)
c.2831A>G (p.Lys944Arg)
n.3204A>G
n.3428A>G
c.2000A>G (p.Lys667Arg)
c.1775A>G (p.Lys592Arg)
c.2870A>G (p.Lys957Arg)
n.285A>G
c.1022-1733A>G
c.*166A>G (n.*166A>G)
n.3809A>G
n.2410A>G
c.2921A>G (p.Lys974Arg)
n.411A>G
c.2969A>G (p.Lys990Arg)
c.3029A>G (p.Lys1010Arg)
c.2579A>G (p.Lys860Arg)
c.881A>G (p.Lys294Arg)
c.877-1733A>G (n.877-1733A>G)
c.2930A>G (p.Lys977Arg)
c.3061-1733A>G (n.3061-1733A>G)
c.2651A>G (p.Lys884Arg)
c.2731-1733A>G (n.2731-1733A>G)
c.1733A>G (p.Lys578Arg)
n.3284A>G
13g.51944287T>GCA388030779ATP7Bc.*894-1733A>C (n.*894-1733A>C)
c.*1809A>C (n.*1809A>C)
c.2444A>C (p.Lys815Thr)
c.3065A>C (p.Lys1022Thr)
c.2732A>C (p.Lys911Thr)
c.2813A>C (p.Lys938Thr)
c.2831A>C (p.Lys944Thr)
n.3204A>C
n.3428A>C
c.2000A>C (p.Lys667Thr)
c.1775A>C (p.Lys592Thr)
c.2870A>C (p.Lys957Thr)
n.285A>C
c.1022-1733A>C
c.*166A>C (n.*166A>C)
n.3809A>C
n.2410A>C
c.2921A>C (p.Lys974Thr)
n.411A>C
c.2969A>C (p.Lys990Thr)
c.3029A>C (p.Lys1010Thr)
c.2579A>C (p.Lys860Thr)
c.881A>C (p.Lys294Thr)
c.877-1733A>C (n.877-1733A>C)
c.2930A>C (p.Lys977Thr)
c.3061-1733A>C (n.3061-1733A>C)
c.2651A>C (p.Lys884Thr)
c.2731-1733A>C (n.2731-1733A>C)
c.1733A>C (p.Lys578Thr)
n.3284A>C
13g.51944288T>ACA388030788ATP7Bc.*894-1734A>T (n.*894-1734A>T)
c.*1808A>T (n.*1808A>T)
c.2443A>T (p.Lys815Ter)
c.3064A>T (p.Lys1022Ter)
c.2731A>T (p.Lys911Ter)
c.2812A>T (p.Lys938Ter)
c.2830A>T (p.Lys944Ter)
n.3203A>T
n.3427A>T
c.1999A>T (p.Lys667Ter)
c.1774A>T (p.Lys592Ter)
c.2869A>T (p.Lys957Ter)
n.284A>T
c.1022-1734A>T
c.*165A>T (n.*165A>T)
n.3808A>T
n.2409A>T
c.2920A>T (p.Lys974Ter)
n.410A>T
c.2968A>T (p.Lys990Ter)
c.3028A>T (p.Lys1010Ter)
c.2578A>T (p.Lys860Ter)
c.880A>T (p.Lys294Ter)
c.877-1734A>T (n.877-1734A>T)
c.2929A>T (p.Lys977Ter)
c.3061-1734A>T (n.3061-1734A>T)
c.2650A>T (p.Lys884Ter)
c.2731-1734A>T (n.2731-1734A>T)
c.1732A>T (p.Lys578Ter)
n.3283A>T
13g.51944288T>CCA388030795ATP7Bc.*894-1734A>G (n.*894-1734A>G)
c.*1808A>G (n.*1808A>G)
c.2443A>G (p.Lys815Glu)
c.3064A>G (p.Lys1022Glu)
c.2731A>G (p.Lys911Glu)
c.2812A>G (p.Lys938Glu)
c.2830A>G (p.Lys944Glu)
n.3203A>G
n.3427A>G
c.1999A>G (p.Lys667Glu)
c.1774A>G (p.Lys592Glu)
c.2869A>G (p.Lys957Glu)
n.284A>G
c.1022-1734A>G
c.*165A>G (n.*165A>G)
n.3808A>G
n.2409A>G
c.2920A>G (p.Lys974Glu)
n.410A>G
c.2968A>G (p.Lys990Glu)
c.3028A>G (p.Lys1010Glu)
c.2578A>G (p.Lys860Glu)
c.880A>G (p.Lys294Glu)
c.877-1734A>G (n.877-1734A>G)
c.2929A>G (p.Lys977Glu)
c.3061-1734A>G (n.3061-1734A>G)
c.2650A>G (p.Lys884Glu)
c.2731-1734A>G (n.2731-1734A>G)
c.1732A>G (p.Lys578Glu)
n.3283A>G
13g.51944288T>GCA388030790ATP7Bc.*894-1734A>C (n.*894-1734A>C)
c.*1808A>C (n.*1808A>C)
c.2443A>C (p.Lys815Gln)
c.3064A>C (p.Lys1022Gln)
c.2731A>C (p.Lys911Gln)
c.2812A>C (p.Lys938Gln)
c.2830A>C (p.Lys944Gln)
n.3203A>C
n.3427A>C
c.1999A>C (p.Lys667Gln)
c.1774A>C (p.Lys592Gln)
c.2869A>C (p.Lys957Gln)
n.284A>C
c.1022-1734A>C
c.*165A>C (n.*165A>C)
n.3808A>C
n.2409A>C
c.2920A>C (p.Lys974Gln)
n.410A>C
c.2968A>C (p.Lys990Gln)
c.3028A>C (p.Lys1010Gln)
c.2578A>C (p.Lys860Gln)
c.880A>C (p.Lys294Gln)
c.877-1734A>C (n.877-1734A>C)
c.2929A>C (p.Lys977Gln)
c.3061-1734A>C (n.3061-1734A>C)
c.2650A>C (p.Lys884Gln)
c.2731-1734A>C (n.2731-1734A>C)
c.1732A>C (p.Lys578Gln)
n.3283A>C
13g.51944288_51944289insGCA2623116494ATP7Bc.*894-1735_*894-1734insC (n.*894-1735_*894-1734insC)
c.*1807_*1808insC (n.*1807_*1808insC)
c.2442_2443insC (p.Lys815GlnfsTer6)
c.3063_3064insC (p.Lys1022GlnfsTer6)
c.2730_2731insC (p.Lys911GlnfsTer6)
c.2811_2812insC (p.Lys938GlnfsTer6)
c.2829_2830insC (p.Lys944GlnfsTer6)
n.3202_3203insC
n.3426_3427insC
c.1998_1999insC (p.Lys667GlnfsTer6)
c.1773_1774insC (p.Lys592GlnfsTer6)
c.2868_2869insC (p.Lys957GlnfsTer6)
n.283_284insC
c.1022-1735_1022-1734insC
c.*164_*165insC (n.*164_*165insC)
n.3807_3808insC
n.2408_2409insC
c.2919_2920insC (p.Lys974GlnfsTer6)
n.409_410insC
c.2967_2968insC (p.Lys990GlnfsTer6)
c.3027_3028insC (p.Lys1010GlnfsTer6)
c.2577_2578insC (p.Lys860GlnfsTer6)
c.879_880insC (p.Lys294GlnfsTer6)
c.877-1735_877-1734insC (n.877-1735_877-1734insC)
c.2928_2929insC (p.Lys977GlnfsTer6)
c.3061-1735_3061-1734insC (n.3061-1735_3061-1734insC)
c.2649_2650insC (p.Lys884GlnfsTer6)
c.2731-1735_2731-1734insC (n.2731-1735_2731-1734insC)
c.1731_1732insC (p.Lys578GlnfsTer6)
n.3282_3283insC
 gnomAD v4
13g.51944289T>ACA483894772ATP7Bc.*894-1735A>T (n.*894-1735A>T)
c.*1807A>T (n.*1807A>T)
c.2442A>T (p.Ile814=)
c.3063A>T (p.Ile1021=)
c.2730A>T (p.Ile910=)
c.2811A>T (p.Ile937=)
c.2829A>T (p.Ile943=)
n.3202A>T
n.3426A>T
c.1998A>T (p.Ile666=)
c.1773A>T (p.Ile591=)
c.2868A>T (p.Ile956=)
n.283A>T
c.1022-1735A>T
c.*164A>T (n.*164A>T)
n.3807A>T
n.2408A>T
c.2919A>T (p.Ile973=)
n.409A>T
c.2967A>T (p.Ile989=)
c.3027A>T (p.Ile1009=)
c.2577A>T (p.Ile859=)
c.879A>T (p.Ile293=)
c.877-1735A>T (n.877-1735A>T)
c.2928A>T (p.Ile976=)
c.3061-1735A>T (n.3061-1735A>T)
c.2649A>T (p.Ile883=)
c.2731-1735A>T (n.2731-1735A>T)
c.1731A>T (p.Ile577=)
n.3282A>T
13g.51944289T>CCA388030797ATP7Bc.*894-1735A>G (n.*894-1735A>G)
c.*1807A>G (n.*1807A>G)
c.2442A>G (p.Ile814Met)
c.3063A>G (p.Ile1021Met)
c.2730A>G (p.Ile910Met)
c.2811A>G (p.Ile937Met)
c.2829A>G (p.Ile943Met)
n.3202A>G
n.3426A>G
c.1998A>G (p.Ile666Met)
c.1773A>G (p.Ile591Met)
c.2868A>G (p.Ile956Met)
n.283A>G
c.1022-1735A>G
c.*164A>G (n.*164A>G)
n.3807A>G
n.2408A>G
c.2919A>G (p.Ile973Met)
n.409A>G
c.2967A>G (p.Ile989Met)
c.3027A>G (p.Ile1009Met)
c.2577A>G (p.Ile859Met)
c.879A>G (p.Ile293Met)
c.877-1735A>G (n.877-1735A>G)
c.2928A>G (p.Ile976Met)
c.3061-1735A>G (n.3061-1735A>G)
c.2649A>G (p.Ile883Met)
c.2731-1735A>G (n.2731-1735A>G)
c.1731A>G (p.Ile577Met)
n.3282A>G
 dbSNP
13g.51944289T>GCA483894773ATP7Bc.*894-1735A>C (n.*894-1735A>C)
c.*1807A>C (n.*1807A>C)
c.2442A>C (p.Ile814=)
c.3063A>C (p.Ile1021=)
c.2730A>C (p.Ile910=)
c.2811A>C (p.Ile937=)
c.2829A>C (p.Ile943=)
n.3202A>C
n.3426A>C
c.1998A>C (p.Ile666=)
c.1773A>C (p.Ile591=)
c.2868A>C (p.Ile956=)
n.283A>C
c.1022-1735A>C
c.*164A>C (n.*164A>C)
n.3807A>C
n.2408A>C
c.2919A>C (p.Ile973=)
n.409A>C
c.2967A>C (p.Ile989=)
c.3027A>C (p.Ile1009=)
c.2577A>C (p.Ile859=)
c.879A>C (p.Ile293=)
c.877-1735A>C (n.877-1735A>C)
c.2928A>C (p.Ile976=)
c.3061-1735A>C (n.3061-1735A>C)
c.2649A>C (p.Ile883=)
c.2731-1735A>C (n.2731-1735A>C)
c.1731A>C (p.Ile577=)
n.3282A>C
13g.51944289T=CA2091564275ATP7Bc.*894-1735A= (n.*894-1735A=)
c.*1807A= (n.*1807A=)
c.2442A= (p.Ile814=)
c.3063A= (p.Ile1021=)
c.2730A= (p.Ile910=)
c.2811A= (p.Ile937=)
c.2829A= (p.Ile943=)
n.3202A=
n.3426A=
c.1998A= (p.Ile666=)
c.1773A= (p.Ile591=)
c.2868A= (p.Ile956=)
n.283A=
c.1022-1735A=
c.*164A= (n.*164A=)
n.3807A=
n.2408A=
c.2919A= (p.Ile973=)
n.409A=
c.2967A= (p.Ile989=)
c.3027A= (p.Ile1009=)
c.2577A= (p.Ile859=)
c.879A= (p.Ile293=)
c.877-1735A= (n.877-1735A=)
c.2928A= (p.Ile976=)
c.3061-1735A= (n.3061-1735A=)
c.2649A= (p.Ile883=)
c.2731-1735A= (n.2731-1735A=)
c.1731A= (p.Ile577=)
n.3282A=
13g.51944289_51944290insGCA2623116502ATP7Bc.*894-1736_*894-1735insC (n.*894-1736_*894-1735insC)
c.*1806_*1807insC (n.*1806_*1807insC)
c.2441_2442insC (p.Thr816AspfsTer5)
c.3062_3063insC (p.Thr1023AspfsTer5)
c.2729_2730insC (p.Thr912AspfsTer5)
c.2810_2811insC (p.Thr939AspfsTer5)
c.2828_2829insC (p.Thr945AspfsTer5)
n.3201_3202insC
n.3425_3426insC
c.1997_1998insC (p.Thr668AspfsTer5)
c.1772_1773insC (p.Thr593AspfsTer5)
c.2867_2868insC (p.Thr958AspfsTer5)
n.282_283insC
c.1022-1736_1022-1735insC
c.*163_*164insC (n.*163_*164insC)
n.3806_3807insC
n.2407_2408insC
c.2918_2919insC (p.Thr975AspfsTer5)
n.408_409insC
c.2966_2967insC (p.Thr991AspfsTer5)
c.3026_3027insC (p.Thr1011AspfsTer5)
c.2576_2577insC (p.Thr861AspfsTer5)
c.878_879insC (p.Thr295AspfsTer5)
c.877-1736_877-1735insC (n.877-1736_877-1735insC)
c.2927_2928insC (p.Thr978AspfsTer5)
c.3061-1736_3061-1735insC (n.3061-1736_3061-1735insC)
c.2648_2649insC (p.Thr885AspfsTer5)
c.2731-1736_2731-1735insC (n.2731-1736_2731-1735insC)
c.1730_1731insC (p.Thr579AspfsTer5)
n.3281_3282insC
 gnomAD v4
13g.51944290A=CA2091564280ATP7Bc.*894-1736T= (n.*894-1736T=)
c.*1806T= (n.*1806T=)
c.2441T= (p.Ile814=)
c.3062T= (p.Ile1021=)
c.2729T= (p.Ile910=)
c.2810T= (p.Ile937=)
c.2828T= (p.Ile943=)
n.3201T=
n.3425T=
c.1997T= (p.Ile666=)
c.1772T= (p.Ile591=)
c.2867T= (p.Ile956=)
n.282T=
c.1022-1736T=
c.*163T= (n.*163T=)
n.3806T=
n.2407T=
c.2918T= (p.Ile973=)
n.408T=
c.2966T= (p.Ile989=)
c.3026T= (p.Ile1009=)
c.2576T= (p.Ile859=)
c.878T= (p.Ile293=)
c.877-1736T= (n.877-1736T=)
c.2927T= (p.Ile976=)
c.3061-1736T= (n.3061-1736T=)
c.2648T= (p.Ile883=)
c.2731-1736T= (n.2731-1736T=)
c.1730T= (p.Ile577=)
n.3281T=
13g.51944290A>CCA388030799ATP7Bc.*894-1736T>G (n.*894-1736T>G)
c.*1806T>G (n.*1806T>G)
c.2441T>G (p.Ile814Arg)
c.3062T>G (p.Ile1021Arg)
c.2729T>G (p.Ile910Arg)
c.2810T>G (p.Ile937Arg)
c.2828T>G (p.Ile943Arg)
n.3201T>G
n.3425T>G
c.1997T>G (p.Ile666Arg)
c.1772T>G (p.Ile591Arg)
c.2867T>G (p.Ile956Arg)
n.282T>G
c.1022-1736T>G
c.*163T>G (n.*163T>G)
n.3806T>G
n.2407T>G
c.2918T>G (p.Ile973Arg)
n.408T>G
c.2966T>G (p.Ile989Arg)
c.3026T>G (p.Ile1009Arg)
c.2576T>G (p.Ile859Arg)
c.878T>G (p.Ile293Arg)
c.877-1736T>G (n.877-1736T>G)
c.2927T>G (p.Ile976Arg)
c.3061-1736T>G (n.3061-1736T>G)
c.2648T>G (p.Ile883Arg)
c.2731-1736T>G (n.2731-1736T>G)
c.1730T>G (p.Ile577Arg)
n.3281T>G
13g.51944290A>GCA388030800ATP7Bc.*894-1736T>C (n.*894-1736T>C)
c.*1806T>C (n.*1806T>C)
c.2441T>C (p.Ile814Thr)
c.3062T>C (p.Ile1021Thr)
c.2729T>C (p.Ile910Thr)
c.2810T>C (p.Ile937Thr)
c.2828T>C (p.Ile943Thr)
n.3201T>C
n.3425T>C
c.1997T>C (p.Ile666Thr)
c.1772T>C (p.Ile591Thr)
c.2867T>C (p.Ile956Thr)
n.282T>C
c.1022-1736T>C
c.*163T>C (n.*163T>C)
n.3806T>C
n.2407T>C
c.2918T>C (p.Ile973Thr)
n.408T>C
c.2966T>C (p.Ile989Thr)
c.3026T>C (p.Ile1009Thr)
c.2576T>C (p.Ile859Thr)
c.878T>C (p.Ile293Thr)
c.877-1736T>C (n.877-1736T>C)
c.2927T>C (p.Ile976Thr)
c.3061-1736T>C (n.3061-1736T>C)
c.2648T>C (p.Ile883Thr)
c.2731-1736T>C (n.2731-1736T>C)
c.1730T>C (p.Ile577Thr)
n.3281T>C
13g.51944290A>TCA250080312ATP7Bc.*894-1736T>A (n.*894-1736T>A)
c.*1806T>A (n.*1806T>A)
c.2441T>A (p.Ile814Lys)
c.3062T>A (p.Ile1021Lys)
c.2729T>A (p.Ile910Lys)
c.2810T>A (p.Ile937Lys)
c.2828T>A (p.Ile943Lys)
n.3201T>A
n.3425T>A
c.1997T>A (p.Ile666Lys)
c.1772T>A (p.Ile591Lys)
c.2867T>A (p.Ile956Lys)
n.282T>A
c.1022-1736T>A
c.*163T>A (n.*163T>A)
n.3806T>A
n.2407T>A
c.2918T>A (p.Ile973Lys)
n.408T>A
c.2966T>A (p.Ile989Lys)
c.3026T>A (p.Ile1009Lys)
c.2576T>A (p.Ile859Lys)
c.878T>A (p.Ile293Lys)
c.877-1736T>A (n.877-1736T>A)
c.2927T>A (p.Ile976Lys)
c.3061-1736T>A (n.3061-1736T>A)
c.2648T>A (p.Ile883Lys)
c.2731-1736T>A (n.2731-1736T>A)
c.1730T>A (p.Ile577Lys)
n.3281T>A
 ClinVar dbSNP
13g.51944291T>ACA388030806ATP7Bc.*894-1737A>T (n.*894-1737A>T)
c.*1805A>T (n.*1805A>T)
c.2440A>T (p.Ile814Leu)
c.3061A>T (p.Ile1021Leu)
c.2728A>T (p.Ile910Leu)
c.2809A>T (p.Ile937Leu)
c.2827A>T (p.Ile943Leu)
n.3200A>T
n.3424A>T
c.1996A>T (p.Ile666Leu)
c.1771A>T (p.Ile591Leu)
c.2866A>T (p.Ile956Leu)
n.281A>T
c.1022-1737A>T
c.*162A>T (n.*162A>T)
n.3805A>T
n.2406A>T
c.2917A>T (p.Ile973Leu)
n.407A>T
c.2965A>T (p.Ile989Leu)
c.3025A>T (p.Ile1009Leu)
c.2575A>T (p.Ile859Leu)
c.877A>T (p.Ile293Leu)
c.877-1737A>T (n.877-1737A>T)
c.2926A>T (p.Ile976Leu)
c.3061-1737A>T (n.3061-1737A>T)
c.2647A>T (p.Ile883Leu)
c.2731-1737A>T (n.2731-1737A>T)
c.1729A>T (p.Ile577Leu)
n.3280A>T
13g.51944291T>CCA6988814ATP7Bc.*894-1737A>G (n.*894-1737A>G)
c.*1805A>G (n.*1805A>G)
c.2440A>G (p.Ile814Val)
c.3061A>G (p.Ile1021Val)
c.2728A>G (p.Ile910Val)
c.2809A>G (p.Ile937Val)
c.2827A>G (p.Ile943Val)
n.3200A>G
n.3424A>G
c.1996A>G (p.Ile666Val)
c.1771A>G (p.Ile591Val)
c.2866A>G (p.Ile956Val)
n.281A>G
c.1022-1737A>G
c.*162A>G (n.*162A>G)
n.3805A>G
n.2406A>G
c.2917A>G (p.Ile973Val)
n.407A>G
c.2965A>G (p.Ile989Val)
c.3025A>G (p.Ile1009Val)
c.2575A>G (p.Ile859Val)
c.877A>G (p.Ile293Val)
c.877-1737A>G (n.877-1737A>G)
c.2926A>G (p.Ile976Val)
c.3061-1737A>G (n.3061-1737A>G)
c.2647A>G (p.Ile883Val)
c.2731-1737A>G (n.2731-1737A>G)
c.1729A>G (p.Ile577Val)
n.3280A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944291T>GCA388030811ATP7Bc.*894-1737A>C (n.*894-1737A>C)
c.*1805A>C (n.*1805A>C)
c.2440A>C (p.Ile814Leu)
c.3061A>C (p.Ile1021Leu)
c.2728A>C (p.Ile910Leu)
c.2809A>C (p.Ile937Leu)
c.2827A>C (p.Ile943Leu)
n.3200A>C
n.3424A>C
c.1996A>C (p.Ile666Leu)
c.1771A>C (p.Ile591Leu)
c.2866A>C (p.Ile956Leu)
n.281A>C
c.1022-1737A>C
c.*162A>C (n.*162A>C)
n.3805A>C
n.2406A>C
c.2917A>C (p.Ile973Leu)
n.407A>C
c.2965A>C (p.Ile989Leu)
c.3025A>C (p.Ile1009Leu)
c.2575A>C (p.Ile859Leu)
c.877A>C (p.Ile293Leu)
c.877-1737A>C (n.877-1737A>C)
c.2926A>C (p.Ile976Leu)
c.3061-1737A>C (n.3061-1737A>C)
c.2647A>C (p.Ile883Leu)
c.2731-1737A>C (n.2731-1737A>C)
c.1729A>C (p.Ile577Leu)
n.3280A>C
13g.51944291T=CA2091564288ATP7Bc.*894-1737A= (n.*894-1737A=)
c.*1805A= (n.*1805A=)
c.2440A= (p.Ile814=)
c.3061A= (p.Ile1021=)
c.2728A= (p.Ile910=)
c.2809A= (p.Ile937=)
c.2827A= (p.Ile943=)
n.3200A=
n.3424A=
c.1996A= (p.Ile666=)
c.1771A= (p.Ile591=)
c.2866A= (p.Ile956=)
n.281A=
c.1022-1737A=
c.*162A= (n.*162A=)
n.3805A=
n.2406A=
c.2917A= (p.Ile973=)
n.407A=
c.2965A= (p.Ile989=)
c.3025A= (p.Ile1009=)
c.2575A= (p.Ile859=)
c.877A= (p.Ile293=)
c.877-1737A= (n.877-1737A=)
c.2926A= (p.Ile976=)
c.3061-1737A= (n.3061-1737A=)
c.2647A= (p.Ile883=)
c.2731-1737A= (n.2731-1737A=)
c.1729A= (p.Ile577=)
n.3280A=
13g.51944292_51944293delCA2623116511ATP7Bc.*894-1738_*894-1737del (n.*894-1738_*894-1737del)
c.*1805-1_*1805del
c.2440-1_2440del
c.3061-1_3061del
c.2728-1_2728del
c.2809-1_2809del
c.2827-1_2827del
n.3199_3200del
n.3424-1_3424del
c.1996-1_1996del
c.1771-1_1771del
c.2866-1_2866del
n.281-1_281del
c.1022-1738_1022-1737del
c.*162-1_*162del
n.3805-1_3805del
n.2406-1_2406del
c.2917-1_2917del
n.407-1_407del
c.2965-1_2965del
c.3025-1_3025del
c.2575-1_2575del
c.877-1_877del
c.877-1738_877-1737del (n.877-1738_877-1737del)
c.2926-1_2926del
c.3061-1738_3061-1737del (n.3061-1738_3061-1737del)
c.2647-1_2647del
c.2731-1738_2731-1737del (n.2731-1738_2731-1737del)
c.1729-1_1729del
n.3280-1_3280del
 gnomAD v4

Number of alleles fetched